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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology - PubMed

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class="collections-new" name="collections" value="new" data-ga-category="save_share" data-ga-action="collections" data-ga-label="collections_radio_new"> <label for="collections-action-panel-new">Create a new collection</label> </li> <li> <input type="radio" id="collections-action-panel-existing" class="collections-existing" name="collections" value="existing" checked="true" data-ga-category="save_share" data-ga-action="collections" data-ga-label="collections_radio_existing"> <label for="collections-action-panel-existing">Add to an existing collection</label> </li> </ul> </div> <div class="controls-wrapper"> <div class="action-panel-control-wrap new-collections-controls"> <label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk"> Name your collection: </label> <input type="text" name="add-to-new-collection" id="collections-action-panel-add-to-new" class="collections-action-add-to-new" pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/" maxlength="100" data-ga-category="save_share" data-ga-action="create_collection" data-ga-label="non_favorties_collection"> <div class="collections-new-name-too-long usa-input-error-message selection-validation-message"> Name must be less than 100 characters </div> </div> <div class="action-panel-control-wrap existing-collections-controls"> <label for="collections-action-panel-add-to-existing" class="action-panel-label"> Choose a collection: </label> <select id="collections-action-panel-add-to-existing" class="action-panel-selector collections-action-add-to-existing" data-ga-category="save_share" data-ga-action="select_collection" data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"> </select> <div class="collections-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your collection due to an error<br> <a href="#">Please try again</a> </div> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore data-ga-category="save_share" data-ga-action="collections" data-ga-label="add"> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to Collections' panel" ref="linksrc=close_collections_panel" aria-controls="collections-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="collections" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="bibliography-action-panel" class="bibliography-action-panel action-panel in-progress-dots-panel" aria-hidden="true" data-bibliography-open-panel-enabled="false" data-bibliography-open-panel-url-hash="#open-bibliography-panel"> <div class="inner-wrap"> <h3 class="action-panel-heading"> Add to My Bibliography </h3> <form id="bibliography-action-panel-form" class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors" data-add-to-bibliography-max-amount="100" data-add-to-bibliography-batch-size="10" data-bibliography-delegates-url="/list-bibliography-delegates/" data-add-to-bibliography-url="/add-to-bibliography/" data-get-article-ids-by-search-url="/get-article-ids-by-search/" data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/"> <input type="hidden" name="csrfmiddlewaretoken" value="xgsIJNtrQqeccvlMi3LJvqggYw6VRhFq8Tl7MQ3igJgVXxnzKiT9tMR4tLht5SKp"> <div class="action-panel-control-wrap bibliographies-controls"> <div class="choice-group"> <ul class="bibliographies-action-add radio-group-items"> <li> <input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/> <label for="my-bibliography">My Bibliography</label> </li> </ul> </div> </div> <div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your delegates due to an error<br> <a href="#">Please try again</a> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to bibliography' panel" ref="linksrc=close_bibliography_panel" aria-controls="bibliography-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="mybib" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true" data-saved-search-open-panel-enabled="false" data-saved-search-open-panel-url-hash="#open-saved-search-panel"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your saved search </h2> <form id="saved-search-action-panel-form" class="saved-search-action-panel-form action-panel-content action-form" data-create-saved-search-url="/create-saved-search/" data-try-search-terms-url="/try-search-term/" data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/"> <input type="hidden" name="csrfmiddlewaretoken" value="xgsIJNtrQqeccvlMi3LJvqggYw6VRhFq8Tl7MQ3igJgVXxnzKiT9tMR4tLht5SKp"> <div class="action-panel-control-wrap"> <label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk"> Name of saved search: </label> <input maxlength="200" type="text" name="saved-search-name" id="saved-search-name" class="saved-search-name" value="" required pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"> </div> <div class="action-panel-control-wrap"> <label for="saved-search-term" class="action-panel-label required-field-asterisk"> Search terms: </label> <textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea> </div> <div class="test-search-term-wrap"> <a href="#" class="try-search-term">Test search terms</a> </div> <div class="choice-group action-panel-extra-margin-top"> <span class="action-panel-label" id="fieldset-label"> Would you like email updates of new search results? </span> <fieldset id="saved-search-alert" aria-describedby="fieldset-label"> <legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend> <ul class="radio-group-items"> <li> <input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked> <label for="saved-search-alert-yes" class="action-panel-label">Yes</label> </li> <li> <input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no"> <label for="saved-search-alert-no" class="action-panel-label">No</label> </li> </ul> </fieldset> </div> <div class="alert-schedule-wrap"> <div class="action-panel-control-wrap"> <label class="action-panel-label"> Email: </label> <span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span> </div> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="saved-search-frequency" class="action-panel-label"> Frequency: </label> <select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency"> <option value="monthly">Monthly</option> <option value="weekly">Weekly</option> <option value="daily">Daily</option> </select> </div> <div class="action-panel-control-wrap saved-search-monthly-additional"> <label for="saved-search-monthly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-monthly-on-day" class="no-border-panel-selector"> <option value="Sunday">The first Sunday</option> <option value="Monday">The first Monday</option> <option value="Tuesday">The first Tuesday</option> <option value="Wednesday">The first Wednesday</option> <option value="Thursday">The first Thursday</option> <option value="Friday">The first Friday</option> <option value="Saturday">The first Saturday</option> <option value="day">The first day</option> <option value="weekday">The first weekday</option> </select> </div> <div class="action-panel-control-wrap saved-search-weekly-additional"> <label for="saved-search-weekly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day"> <option value="Sunday">Sunday</option> <option value="Monday">Monday</option> <option value="Tuesday">Tuesday</option> <option value="Wednesday">Wednesday</option> <option value="Thursday">Thursday</option> <option value="Friday">Friday</option> <option value="Saturday">Saturday</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-report" class="action-panel-label"> Report format: </label> <select id="saved-search-report" class="no-border-panel-selector saved-search-report"> <option value="DocSum">Summary</option> <option value="DocSumText">Summary (text)</option> <option value="Abstract">Abstract</option> <option value="AbstractText">Abstract (text)</option> <option value="MEDLINE">PubMed</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-amount" class="action-panel-label"> Send at most: </label> <select id="saved-search-amount" class="no-border-panel-selector saved-search-amount"> <option value="1">1 item</option> <option value="5" selected>5 items</option> <option value="10">10 items</option> <option value="20">20 items</option> <option value="50">50 items</option> <option value="100">100 items</option> <option value="200">200 items</option> </select> </div> <div> <input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result"> <label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox"> Send even when there aren't any new results </label> </div> <div class="action-panel-control-wrap option-text-in-email-wrap"> <label for="saved-search-email-text" class="action-panel-label"> Optional text in email: </label> <textarea name="saved-search-email-text" id="saved-search-email-text" class="saved-search-email-text"></textarea> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Saving..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Save </button> <button class="action-panel-cancel" aria-label="Close 'Your saved search' panel" ref="linksrc=close_saved_search_panel" aria-controls="saved-search-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="alert" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Create a file for external citation management software </h2> <form id="citation-manager-action-panel-form" class="action-panel-content action-form" action="/results-export-ids/" data-by-search-action="/results-export-search-data/" data-by-ids-action="/results-export-ids/" method="post" data-by-search-method="post" data-by-ids-method="post"> <input type="hidden" name="csrfmiddlewaretoken" value="xgsIJNtrQqeccvlMi3LJvqggYw6VRhFq8Tl7MQ3igJgVXxnzKiT9tMR4tLht5SKp"> <input name="results-format" type="hidden" value="pubmed"/> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Sending..." data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="save"> Create file </button> <button class="action-panel-cancel" aria-label="Close 'Send citations to citation manager' panel" ref="linksrc=close_citation_manager_panel" aria-controls="citation-manager-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your RSS Feed </h2> <form id="rss-action-panel-form" class="rss-action-panel-form action-panel-content action-form" data-create-rss-feed-url="/create-rss-feed-url/" data-search-form-term-value=""> <input type="hidden" name="csrfmiddlewaretoken" value="xgsIJNtrQqeccvlMi3LJvqggYw6VRhFq8Tl7MQ3igJgVXxnzKiT9tMR4tLht5SKp"> <div class="action-panel-control-wrap"> <label for="rss-name" class="action-panel-label required-field-asterisk"> Name of RSS Feed: </label> <input maxlength="200" placeholder="Name" type="text" name="rss-name" id="rss-name" class="rss-name" value='' required pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"> </div> <div class="rss-limit-wrap"> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="rss-limit" class="action-panel-label"> Number of items displayed: </label> <select id="rss-limit" class="no-border-panel-selector rss-limit"> <option value="5">5</option> <option value="10">10</option> <option value="15" selected="selected">15</option> <option value="20">20</option> <option value="50">50</option> <option value="100">100</option> </select> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Creating..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Create RSS </button> <button class="action-panel-cancel" aria-label="Close 'Your RSS' panel" ref="linksrc=close_rss_panel" aria-controls="rss-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="alert" data-ga-label="cancel"> Cancel </button> </div> <div class="action-panel-control-wrap rss-link-copy-wrap"> <label for="rss-link" class="usa-sr-only">RSS Link</label> <input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link"> <button type="button" disabled class="rss-link-copy-button disabled" data-ga-category="save_share" data-ga-action="rss" data-ga-label="copy"> Copy </button> </div> </form> </div> </div> </div> </div> <div class="article-page" id="article-page" data-article-pmid="25741868"> <aside class="page-sidebar"> <div class="inner-wrap"> <div class="full-text-links"> <div class="full-view"> <h3 class="title"> Full text links </h3> <div class="full-text-links-list"> <a 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data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="xgsIJNtrQqeccvlMi3LJvqggYw6VRhFq8Tl7MQ3igJgVXxnzKiT9tMR4tLht5SKp"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio" id="collections-action-dialog-new" class="collections-new" name="collections" value="new" data-ga-category="collections_button" data-ga-action="click" data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio" id="collections-action-dialog-existing" class="collections-existing" name="collections" value="existing" checked="true" data-ga-category="collections_button" data-ga-action="click" data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk"> Name your collection: </label><input type="text" name="add-to-new-collection" id="collections-action-dialog-add-to-new" class="collections-action-add-to-new" pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/" maxlength="100" data-ga-category="collections_button" data-ga-action="create_collection" data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message"> Name must be less than 100 characters </div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label"> Choose a collection: </label><select id="collections-action-dialog-add-to-existing" class="action-panel-selector collections-action-add-to-existing" data-ga-category="collections_button" data-ga-action="select_collection" data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore data-ga-category="collections_button" data-ga-action="click" data-ga-label="add"> Add </button><button class="action-panel-cancel" aria-label="Close 'Add to Collections' panel" ref="linksrc=close_collections_panel" aria-controls="collections-action-panel" aria-expanded="false" data-ga-category="collections_button" data-ga-action="click" data-ga-label="cancel"> Cancel </button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger" title="Open dialog with more actions to take" ref="linksrc=more_actions_btn"></button><div class="display-options" 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<div class="full-view" id="full-view-heading"> <div class="article-citation"> <div class="publication-type" >Guideline</div> <div class="article-source"> <div class="journal-actions dropdown-block"><button id="full-view-journal-trigger" class="journal-actions-trigger trigger" ref="linksrc=journal_actions_btn" title="Genetics in medicine : official journal of the American College of Medical Genetics" tabindex="0" aria-controls="full-view-journal" aria-expanded="false" aria-label="Toggle dropdown menu for journal Genetics in medicine : official journal of the American College of Medical Genetics" data-pinger-ignore> Genet Med </button><div id="full-view-journal" class="journal-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for journal Genetics in medicine : official journal of the American College of Medical Genetics"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link 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class="cit">2015 May;17(5):405-24.</span> </div> <span class="citation-doi"> doi: 10.1038/gim.2015.30. </span> <span class="secondary-date"> Epub 2015 Mar 5. </span> </div> <h1 class="heading-title"> Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology </h1> <div class="inline-authors"> <div class="authors"> <div class="authors-list"> <span class="authors-list-item "><a class="full-name" href="/?term=Richards+S&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sue Richards">Sue Richards</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Molecular and Medical Genetics, Knight Diagnostic Laboratories, Oregon Health &amp; Science University, Portland, Oregon, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Aziz+N&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Nazneen Aziz">Nazneen Aziz</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="1] College of American Pathologists, Chicago, Illinois, USA [2] Current affiliation: Phoenix Children&#x27;s Hospital, Phoenix, Arizona, USA." href="#full-view-affiliation-2" ref="linksrc=author_aff"> 2 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bale+S&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sherri Bale">Sherri Bale</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="GeneDx, Gaithersburg, Maryland, USA." href="#full-view-affiliation-3" ref="linksrc=author_aff"> 3 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bick+D&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="David Bick">David Bick</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA." href="#full-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Das+S&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Soma Das">Soma Das</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, Clinical Molecular Genetics Laboratory, The University of Chicago, Chicago, Illinois, USA." href="#full-view-affiliation-5" ref="linksrc=author_aff"> 5 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Gastier-Foster+J&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Julie Gastier-Foster">Julie Gastier-Foster</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="1] Cytogenetics/Molecular Genetics Laboratory, Nationwide Children&#x27;s Hospital, Columbus, Ohio, USA [2] Department of Pathology, Ohio State University College of Medicine, Columbus, Ohio, USA [3] Department of Pediatrics, Ohio State University College of Medicine, Columbus, Ohio, USA." href="#full-view-affiliation-6" ref="linksrc=author_aff"> 6 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Grody+WW&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Wayne W Grody">Wayne W Grody</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="1] Department of Pathology and Laboratory Medicine, University of California Los Angeles School of Medicine, Los Angeles, California, USA [2] Department of Pediatrics, University of California Los Angeles School of Medicine, Los Angeles, California, USA [3] Department of Human Genetics, University of California Los Angeles School of Medicine, Los Angeles, California, USA." href="#full-view-affiliation-7" ref="linksrc=author_aff"> 7 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Hegde+M&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Madhuri Hegde">Madhuri Hegde</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, Emory Genetics Laboratory, Emory University, Atlanta, Georgia, USA." href="#full-view-affiliation-8" ref="linksrc=author_aff"> 8 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lyon+E&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Elaine Lyon">Elaine Lyon</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pathology, ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA." href="#full-view-affiliation-9" ref="linksrc=author_aff"> 9 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Spector+E&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Elaine Spector">Elaine Spector</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Molecular Genetics Laboratory, Children&#x27;s Hospital Colorado, University of Colorado Anschutz Medical School, Denver, Colorado, USA." href="#full-view-affiliation-10" ref="linksrc=author_aff"> 10 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Voelkerding+K&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Karl Voelkerding">Karl Voelkerding</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pathology, ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA." href="#full-view-affiliation-9" ref="linksrc=author_aff"> 9 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Rehm+HL&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Heidi L Rehm">Heidi L Rehm</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Partners Laboratory for Molecular Medicine and Department of Pathology, Brigham &amp; Women&#x27;s Hospital and Harvard Medical School, Boston, Massachusetts, USA." href="#full-view-affiliation-11" ref="linksrc=author_aff"> 11 </a></sup><span class="semicolon">;&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=ACMG+Laboratory+Quality+Assurance+Committee%5BCorporate+Author%5D" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="ACMG Laboratory Quality Assurance Committee">ACMG Laboratory Quality Assurance Committee</a></span> </div> </div> </div> <div class="short-article-details"> Affiliations <button class="more-details" id="toggle-authors" data-alt-text="Collapse" aria-controls="expanded-authors" aria-expanded="false" data-pinger-ignore data-fetch-url="/25741868/long-authors/" data-id-prefix=""> <span class="title"> Expand </span> </button> </div> <div class="extended-article-details" id="expanded-authors" aria-hidden="true"> <div class="expanded-authors" id="full-view-expanded-authors"> <div class="affiliations"> <h3 class="title"> Affiliations </h3> <ul class="item-list"> <li data-affiliation-id="full-view-affiliation-1" id="full-view-affiliation-1" ><sup class="key">1</sup> Department of Molecular and Medical Genetics, Knight Diagnostic Laboratories, Oregon Health &amp; Science University, Portland, Oregon, USA.</li> <li data-affiliation-id="full-view-affiliation-2" id="full-view-affiliation-2" ><sup class="key">2</sup> 1] College of American Pathologists, Chicago, Illinois, USA [2] Current affiliation: Phoenix Children&#x27;s Hospital, Phoenix, Arizona, USA.</li> <li data-affiliation-id="full-view-affiliation-3" id="full-view-affiliation-3" ><sup class="key">3</sup> GeneDx, Gaithersburg, Maryland, USA.</li> <li data-affiliation-id="full-view-affiliation-4" id="full-view-affiliation-4" ><sup class="key">4</sup> Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.</li> <li data-affiliation-id="full-view-affiliation-5" id="full-view-affiliation-5" ><sup class="key">5</sup> Department of Human Genetics, Clinical Molecular Genetics Laboratory, The University of Chicago, Chicago, Illinois, USA.</li> <li data-affiliation-id="full-view-affiliation-6" id="full-view-affiliation-6" ><sup class="key">6</sup> 1] Cytogenetics/Molecular Genetics Laboratory, Nationwide Children&#x27;s Hospital, Columbus, Ohio, USA [2] Department of Pathology, Ohio State University College of Medicine, Columbus, Ohio, USA [3] Department of Pediatrics, Ohio State University College of Medicine, Columbus, Ohio, USA.</li> <li data-affiliation-id="full-view-affiliation-7" id="full-view-affiliation-7" ><sup class="key">7</sup> 1] Department of Pathology and Laboratory Medicine, University of California Los Angeles School of Medicine, Los Angeles, California, USA [2] Department of Pediatrics, University of California Los Angeles School of Medicine, Los Angeles, California, USA [3] Department of Human Genetics, University of California Los Angeles School of Medicine, Los Angeles, California, USA.</li> <li data-affiliation-id="full-view-affiliation-8" id="full-view-affiliation-8" ><sup class="key">8</sup> Department of Human Genetics, Emory Genetics Laboratory, Emory University, Atlanta, Georgia, USA.</li> <li data-affiliation-id="full-view-affiliation-9" id="full-view-affiliation-9" ><sup class="key">9</sup> Department of Pathology, ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA.</li> <li data-affiliation-id="full-view-affiliation-10" id="full-view-affiliation-10" ><sup class="key">10</sup> Department of Pediatrics, Molecular Genetics Laboratory, Children&#x27;s Hospital Colorado, University of Colorado Anschutz Medical School, Denver, Colorado, USA.</li> <li data-affiliation-id="full-view-affiliation-11" id="full-view-affiliation-11" ><sup class="key">11</sup> Partners Laboratory for Molecular Medicine and Department of Pathology, Brigham &amp; Women&#x27;s Hospital and Harvard Medical School, Boston, Massachusetts, USA.</li> </ul> </div> </div> </div> <ul class="identifiers" id="full-view-identifiers"> <li> <span class="identifier pubmed"> <span class="id-label"> PMID: </span> <strong class="current-id" title="PubMed ID">25741868</strong> </span> </li> <li> <span class="identifier pmc"> <span class="id-label"> PMCID: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&amp;article_id=PMC4544753&amp;id_type=PMC" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC4544753/" data-ga-category="full_text" data-ga-action="PMCID" > PMC4544753 </a> </span> </li> <li> <span class="identifier doi"> <span class="id-label"> DOI: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&amp;article_id=10.1038/gim.2015.30&amp;id_type=DOI" href="https://doi.org/10.1038/gim.2015.30" data-ga-category="full_text" data-ga-action="DOI" > 10.1038/gim.2015.30 </a> </span> </li> </ul> <div class="in-clipboard-label " hidden> Item in Clipboard </div> </div> <div class="short-view" id="short-view-heading"> <div class="publication-type" >Guideline</div> <h1 class="heading-title"> Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology </h1> <div class="short-citation"> <span class="authors-list"> <span class="authors-list-item "><span class="full-name">Sue Richards</span><span class="citation-separator">&nbsp;et al.</span></span> </span> <span class="citation-journal"> Genet Med<span class="citation-separator">.</span> </span> <span class="date"> <span class="citation-year">2015 May</span><span class="citation-separator">.</span> </span> </div> <div class="more-article-details-section with-display-settings"> <button class="more-article-details" id="toggle-article-details" data-alt-text="Hide details" ref="linksrc=toggle_article_details" aria-controls="full-article-details" aria-expanded="false" data-fetch-url="/25741868/long-authors/" data-id-prefix=""> <span class="title">Show details</span> </button> <div 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class="authors"> <h3 class="title"> Authors </h3> <div class="authors-list"> <span class="authors-list-item "><a class="full-name" href="/?term=Richards+S&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sue Richards">Sue Richards</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Molecular and Medical Genetics, Knight Diagnostic Laboratories, Oregon Health &amp; Science University, Portland, Oregon, USA." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Aziz+N&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Nazneen Aziz">Nazneen Aziz</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="1] College of American Pathologists, Chicago, Illinois, USA [2] Current affiliation: Phoenix Children&#x27;s Hospital, Phoenix, Arizona, USA." href="#short-view-affiliation-2" ref="linksrc=author_aff"> 2 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bale+S&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sherri Bale">Sherri Bale</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="GeneDx, Gaithersburg, Maryland, USA." href="#short-view-affiliation-3" ref="linksrc=author_aff"> 3 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bick+D&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="David Bick">David Bick</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA." href="#short-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Das+S&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Soma Das">Soma Das</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, Clinical Molecular Genetics Laboratory, The University of Chicago, Chicago, Illinois, USA." href="#short-view-affiliation-5" ref="linksrc=author_aff"> 5 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Gastier-Foster+J&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Julie Gastier-Foster">Julie Gastier-Foster</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="1] Cytogenetics/Molecular Genetics Laboratory, Nationwide Children&#x27;s Hospital, Columbus, Ohio, USA [2] Department of Pathology, Ohio State University College of Medicine, Columbus, Ohio, USA [3] Department of Pediatrics, Ohio State University College of Medicine, Columbus, Ohio, USA." href="#short-view-affiliation-6" ref="linksrc=author_aff"> 6 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Grody+WW&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Wayne W Grody">Wayne W Grody</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="1] Department of Pathology and Laboratory Medicine, University of California Los Angeles School of Medicine, Los Angeles, California, USA [2] Department of Pediatrics, University of California Los Angeles School of Medicine, Los Angeles, California, USA [3] Department of Human Genetics, University of California Los Angeles School of Medicine, Los Angeles, California, USA." href="#short-view-affiliation-7" ref="linksrc=author_aff"> 7 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Hegde+M&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Madhuri Hegde">Madhuri Hegde</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, Emory Genetics Laboratory, Emory University, Atlanta, Georgia, USA." href="#short-view-affiliation-8" ref="linksrc=author_aff"> 8 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lyon+E&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Elaine Lyon">Elaine Lyon</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pathology, ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA." href="#short-view-affiliation-9" ref="linksrc=author_aff"> 9 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Spector+E&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Elaine Spector">Elaine Spector</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Molecular Genetics Laboratory, Children&#x27;s Hospital Colorado, University of Colorado Anschutz Medical School, Denver, Colorado, USA." href="#short-view-affiliation-10" ref="linksrc=author_aff"> 10 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Voelkerding+K&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Karl Voelkerding">Karl Voelkerding</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pathology, ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA." href="#short-view-affiliation-9" ref="linksrc=author_aff"> 9 </a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=Rehm+HL&amp;cauthor_id=25741868" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Heidi L Rehm">Heidi L Rehm</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Partners Laboratory for Molecular Medicine and Department of Pathology, Brigham &amp; Women&#x27;s Hospital and Harvard Medical School, Boston, Massachusetts, USA." href="#short-view-affiliation-11" ref="linksrc=author_aff"> 11 </a></sup><span class="semicolon">;&nbsp;</span></span><span class="authors-list-item "><a class="full-name" href="/?term=ACMG+Laboratory+Quality+Assurance+Committee%5BCorporate+Author%5D" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="ACMG Laboratory Quality Assurance Committee">ACMG Laboratory Quality Assurance Committee</a></span> </div> </div> <div class="affiliations"> <h3 class="title"> Affiliations </h3> <ul class="item-list"> <li data-affiliation-id="short-view-affiliation-1" id="short-view-affiliation-1" ><sup class="key">1</sup> Department of Molecular and Medical Genetics, Knight Diagnostic Laboratories, Oregon Health &amp; Science University, Portland, Oregon, USA.</li> <li data-affiliation-id="short-view-affiliation-2" id="short-view-affiliation-2" ><sup class="key">2</sup> 1] College of American Pathologists, Chicago, Illinois, USA [2] Current affiliation: Phoenix Children&#x27;s Hospital, Phoenix, Arizona, USA.</li> <li data-affiliation-id="short-view-affiliation-3" id="short-view-affiliation-3" ><sup class="key">3</sup> GeneDx, Gaithersburg, Maryland, USA.</li> <li data-affiliation-id="short-view-affiliation-4" id="short-view-affiliation-4" ><sup class="key">4</sup> Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.</li> <li data-affiliation-id="short-view-affiliation-5" id="short-view-affiliation-5" ><sup class="key">5</sup> Department of Human Genetics, Clinical Molecular Genetics Laboratory, The University of Chicago, Chicago, Illinois, USA.</li> <li data-affiliation-id="short-view-affiliation-6" id="short-view-affiliation-6" ><sup class="key">6</sup> 1] Cytogenetics/Molecular Genetics Laboratory, Nationwide Children&#x27;s Hospital, Columbus, Ohio, USA [2] Department of Pathology, Ohio State University College of Medicine, Columbus, Ohio, USA [3] Department of Pediatrics, Ohio State University College of Medicine, Columbus, Ohio, USA.</li> <li data-affiliation-id="short-view-affiliation-7" id="short-view-affiliation-7" ><sup class="key">7</sup> 1] Department of Pathology and Laboratory Medicine, University of California Los Angeles School of Medicine, Los Angeles, California, USA [2] Department of Pediatrics, University of California Los Angeles School of Medicine, Los Angeles, California, USA [3] Department of Human Genetics, University of California Los Angeles School of Medicine, Los Angeles, California, USA.</li> <li data-affiliation-id="short-view-affiliation-8" id="short-view-affiliation-8" ><sup class="key">8</sup> Department of Human Genetics, Emory Genetics Laboratory, Emory University, Atlanta, Georgia, USA.</li> <li data-affiliation-id="short-view-affiliation-9" id="short-view-affiliation-9" ><sup class="key">9</sup> Department of Pathology, ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA.</li> <li data-affiliation-id="short-view-affiliation-10" id="short-view-affiliation-10" ><sup class="key">10</sup> Department of Pediatrics, Molecular Genetics Laboratory, Children&#x27;s Hospital Colorado, University of Colorado Anschutz Medical School, Denver, Colorado, USA.</li> <li data-affiliation-id="short-view-affiliation-11" id="short-view-affiliation-11" ><sup class="key">11</sup> Partners Laboratory for Molecular Medicine and Department of Pathology, Brigham &amp; Women&#x27;s Hospital and Harvard Medical School, Boston, Massachusetts, USA.</li> </ul> </div> </div> <ul class="identifiers" id="short-view-identifiers"> <li> <span class="identifier pubmed"> <span class="id-label"> PMID: </span> <strong class="current-id" title="PubMed ID">25741868</strong> </span> </li> <li> <span class="identifier pmc"> <span class="id-label"> PMCID: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&amp;article_id=PMC4544753&amp;id_type=PMC" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC4544753/" data-ga-category="full_text" data-ga-action="PMCID" > PMC4544753 </a> </span> </li> <li> <span class="identifier doi"> <span class="id-label"> DOI: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&amp;article_id=10.1038/gim.2015.30&amp;id_type=DOI" href="https://doi.org/10.1038/gim.2015.30" data-ga-category="full_text" data-ga-action="DOI" > 10.1038/gim.2015.30 </a> </span> </li> </ul> <div class="in-clipboard-label " hidden> Item in Clipboard </div> </div> </div> </header> <div class="actions-buttons inline"><div class="inner-wrap"><button class="full-text-links-button full-text-links-dialog-trigger" title="Open dialog with full text links" ref="linksrc=full_text_links"> Full text links </button><button class="citation-button citation-dialog-trigger" aria-label="Open dialog with citation text in different styles" data-ga-category="save_share" data-ga-action="cite" data-ga-label="open" data-all-citations-url="/25741868/citations/" data-citation-style="nlm" data-pubmed-format-link="/25741868/export/"><span class="button-label">Cite</span></button><button class="more-actions-button more-actions-dialog-trigger" title="Open dialog with more actions to take" ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format" data-default-format-value="abstract" data-current-format-value="abstract" role="region"><button class="trigger usa-button" title="Change format" data-ga-category="display_options" data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title"> Display options </div><div class="content"><div class="format-container"><span class="option-label"> Format </span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div> <div class="abstract" id="abstract"> <h2 class="title"> Abstract </h2> <div class="abstract-content selected" id="eng-abstract"> <p> The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants.(1) In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next-generation sequencing. By adopting and leveraging next-generation sequencing, clinical laboratories are now performing an ever-increasing catalogue of genetic testing spanning genotyping, single genes, gene panels, exomes, genomes, transcriptomes, and epigenetic assays for genetic disorders. By virtue of increased complexity, this shift in genetic testing has been accompanied by new challenges in sequence interpretation. In this context the ACMG convened a workgroup in 2013 comprising representatives from the ACMG, the Association for Molecular Pathology (AMP), and the College of American Pathologists to revisit and revise the standards and guidelines for the interpretation of sequence variants. The group consisted of clinical laboratory directors and clinicians. This report represents expert opinion of the workgroup with input from ACMG, AMP, and College of American Pathologists stakeholders. These recommendations primarily apply to the breadth of genetic tests used in clinical laboratories, including genotyping, single genes, panels, exomes, and genomes. This report recommends the use of specific standard terminology-"pathogenic," "likely pathogenic," "uncertain significance," "likely benign," and "benign"-to describe variants identified in genes that cause Mendelian disorders. Moreover, this recommendation describes a process for classifying variants into these five categories based on criteria using typical types of variant evidence (e.g., population data, computational data, functional data, segregation data). Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends that clinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments-approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent. </p> </div> </div> <p class="disclaimer" id="disclaimer"> <a href="/disclaimer/" target="_blank" data-ga-category="literature_resources" data-ga-action="disclaimer_link" data-ga-label="under_abstract">PubMed Disclaimer</a> </p> <div class="conflict-of-interest" id="conflict-of-interest"> <h2 class="title"> Conflict of interest statement </h2> <div class="statement"> <p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one"><bold>Conflicts of Interest:</bold> All workgroup members are clinical service providers. No commercial conflict of interest was reported for Sue Richards, David Bick, Soma Das, Wayne Grody, Elaine Spector, Julie Gastier-Foster, Nazneen Aziz, and Karl Voelkerding. The following workgroup members have a commercial conflict of interest: Sherri Bale (GeneDx, BioReference (stock), Advisory boards for RainDance, Ingenuity); Madhuri Hegde (Advisor for: Oxford Genetic Technologies, Tessarae, Ingenuity/Qiagen); Elaine Lyon (Advisory board for Complete Genomics); and Heidi Rehm (Scientific advisory boards: Ingenuity/Qiagen, Complete Genomics, Knome, Focused Genomics).</p> </div> </div> <div class="figures" id="figures"> <h2 class="title"> Figures </h2> <div class="figures-list" id="slides-container" itemscope itemtype="http://schema.org/ImageGallery"> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="0" data-label-slug="figure-1"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b027/4544753/8021006cffcd/nihms697486f1.jpg" itemprop="contentUrl" aria-describedby="figure-caption-0" role="button" data-image-width="1050" data-image-height="823" data-image-alt="Figure 1" data-pmc-id="PMC4544753" data-figure-id="F1"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-0" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b027/4544753/28d18a5a9192/nihms697486f1.gif" alt="Figure 1" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="1050"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="823"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 1. Evidence Framework </p> </strong> <div class="figure-caption-contents"><p> The following chart… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 1. Evidence Framework </p> </strong> <div class="figure-caption-contents"><p> The following chart organizes each of the criteria by the type… </p></div> </div> <figcaption id="figure-caption-0" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 1. Evidence Framework </strong> <div class="figure-caption-contents">The following chart organizes each of the criteria by the type of evidence as well as the strength of the criteria for a benign (left side) or pathogenic (right side) assertion. Evidence code descriptions can be found in Tables 3 and 4. Abbreviations: BS, benign strong; BP, benign supporting; FH, family history; LOF, loss-of-function; MAF, minor allele frequency; path., pathogenic; PM, pathogenic moderate; PP, pathogenic supporting; PS, pathogenic strong; PVS, pathogenic very strong</div> </figcaption> </figure> </div> <!-- Root element of PhotoSwipe. Must have class pswp. --> <div class="pswp figures-dialog" id="figures-dialog" tabindex="-1" role="dialog" aria-hidden="true" data-image-gallery-uid="article-figures" aria-label="Figures Dialog"> <!-- Background of PhotoSwipe. It's a separate element as animating opacity is faster than rgba(). --> <div class="pswp__bg"></div> <!-- Slides wrapper with overflow:hidden. --> <div class="pswp__scroll-wrap"> <!-- Container that holds slides. PhotoSwipe keeps only 3 of them in the DOM to save memory. 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ACMG guides on the interpretation of sequence variants. </a> <div class="docsum-citation full-citation"> <span class="docsum-authors full-authors">Bahcall OG.</span> <span class="docsum-authors short-authors">Bahcall OG.</span> <span class="docsum-journal-citation full-journal-citation">Nat Rev Genet. 2015 May;16(5):256-7. doi: 10.1038/nrg3940. Epub 2015 Apr 9.</span> <span class="docsum-journal-citation short-journal-citation">Nat Rev Genet. 2015.</span> <span class="citation-part">PMID: <span class="docsum-pmid">25854183</span></span> <span class="no-abstract spaced-citation-item citation-part">No abstract available.</span> </div> </div> </li> <li class="full-docsum"> <div class="docsum-content" style="display:inline;"> <a class="docsum-title" href="/26540153/" ref="article_id=26540153&amp;linksrc=comments_link" data-ga-category="comment_correction" data-ga-action="abstract_page_link" data-ga-label="linked-commentary"> Interpreting sequence variants in a clinical context. </a> <div class="docsum-citation full-citation"> <span class="docsum-authors full-authors">Cederbaum S.</span> <span class="docsum-authors short-authors">Cederbaum S.</span> <span class="docsum-journal-citation full-journal-citation">Genet Med. 2015 Dec;17(12):1012. doi: 10.1038/gim.2015.150. Epub 2015 Nov 5.</span> <span class="docsum-journal-citation short-journal-citation">Genet Med. 2015.</span> <span class="citation-part">PMID: <span class="docsum-pmid">26540153</span></span> <span class="no-abstract spaced-citation-item citation-part">No abstract available.</span> </div> </div> </li> <li class="full-docsum"> <div class="docsum-content" style="display:inline;"> <a class="docsum-title" href="/26562226/" ref="article_id=26562226&amp;linksrc=comments_link" data-ga-category="comment_correction" data-ga-action="abstract_page_link" data-ga-label="linked-commentary"> Response to Cederbaum. </a> <div class="docsum-citation full-citation"> <span class="docsum-authors full-authors">Interpretation of Sequence Variants Workgroup.</span> <span class="docsum-authors short-authors">Interpretation of Sequence Variants Workgroup.</span> <span class="docsum-journal-citation full-journal-citation">Genet Med. 2015 Dec;17(12):1013-4. doi: 10.1038/gim.2015.151. 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Nature. 2014;508:469–476. - <a class="reference-link" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC4180223/" ref="linksrc=references_link&amp;ordinalpos=1" data-ga-category="reference" data-ga-action="PMC4180223" > PMC </a> - <a class="reference-link" href="/24759409/" ref="linksrc=references_link&amp;ordinalpos=2" data-ga-category="reference" data-ga-action="24759409" > PubMed </a> </li> </ol> </li> </ol> <div class="actions-bar"> <button class="show-all" ref="linksrc=show_all_references_link" aria-controls="top-references-list-1" data-next-page-url="/25741868/references/" data-ga-category="reference" data-ga-action="show_more" > Show all 56 references </button> </div> </div> </div> </div> <div id="publication-types" class="publication-types keywords-section"> <h2 class="title"> Publication types </h2> <ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword 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hidden aria-label="Dropdown menu for keyword Guideline"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Guideline%22%5Bpt%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22Guideline%22%5Bpt%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&amp;keyword=&quot;Guideline&quot;[pt]" data-ga-category="search" data-ga-action="pub_type" data-ga-label="Guideline"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Guideline" data-ga-category="search_mesh" data-ga-action="pub_type_link" data-ga-label="Guideline"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term="&quot;Guideline&quot;[pt]" data-ga-category="search" data-ga-action="add_to_search" 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class="title"> MeSH terms </h2> <ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Case-Control Studies" tabindex="0" aria-controls="keyword-actions-mesh-terms-0" aria-expanded="false" data-pinger-ignore> Case-Control Studies </button><div id="keyword-actions-mesh-terms-0" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Case-Control Studies"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Case-Control+Studies%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22Case-Control+Studies%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Case-Control Studies&quot;[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Case-Control Studies"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Case-Control+Studies" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Case-Control Studies"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term="&quot;Case-Control Studies&quot;[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label="&quot;Case-Control Studies&quot;[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Gene Frequency" tabindex="0" aria-controls="keyword-actions-mesh-terms-1" aria-expanded="false" data-pinger-ignore> Gene Frequency </button><div id="keyword-actions-mesh-terms-1" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Gene Frequency"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Gene+Frequency%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22Gene+Frequency%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Gene Frequency&quot;[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Gene Frequency"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Gene+Frequency" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Gene Frequency"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term="&quot;Gene Frequency&quot;[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label="&quot;Gene Frequency&quot;[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major" aria-label="Toggle dropdown menu for keyword Genetic Testing / standards*" tabindex="0" aria-controls="keyword-actions-mesh-terms-major-2" aria-expanded="false" data-pinger-ignore> Genetic Testing / standards* </button><div id="keyword-actions-mesh-terms-major-2" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Genetic Testing / standards*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Genetic+Testing%2Fstandards%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22Genetic+Testing%2Fstandards%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Genetic Testing/standards&quot;[MAJR]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Genetic Testing / standards*"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Genetic+Testing" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Genetic Testing / standards*"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term="&quot;Genetic Testing/standards&quot;[MAJR]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label="&quot;Genetic Testing/standards&quot;[MAJR]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major" aria-label="Toggle dropdown menu for keyword Genetic Variation*" tabindex="0" aria-controls="keyword-actions-mesh-terms-major-3" aria-expanded="false" data-pinger-ignore> Genetic Variation* </button><div id="keyword-actions-mesh-terms-major-3" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Genetic Variation*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Genetic+Variation%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22Genetic+Variation%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Genetic Variation&quot;[MAJR]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Genetic Variation*"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Genetic+Variation" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Genetic Variation*"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term="&quot;Genetic Variation&quot;[MAJR]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label="&quot;Genetic Variation&quot;[MAJR]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Humans" tabindex="0" aria-controls="keyword-actions-mesh-terms-4" aria-expanded="false" data-pinger-ignore> Humans </button><div id="keyword-actions-mesh-terms-4" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Humans"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Humans%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22Humans%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Humans&quot;[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Humans"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Humans"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term="&quot;Humans&quot;[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label="&quot;Humans&quot;[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Mutation" tabindex="0" aria-controls="keyword-actions-mesh-terms-5" aria-expanded="false" data-pinger-ignore> Mutation </button><div id="keyword-actions-mesh-terms-5" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Mutation"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Mutation%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22Mutation%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Mutation&quot;[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Mutation"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutation" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Mutation"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term="&quot;Mutation&quot;[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label="&quot;Mutation&quot;[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Odds Ratio" tabindex="0" aria-controls="keyword-actions-mesh-terms-6" aria-expanded="false" data-pinger-ignore> Odds Ratio </button><div id="keyword-actions-mesh-terms-6" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Odds Ratio"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Odds+Ratio%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22Odds+Ratio%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Odds Ratio&quot;[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Odds Ratio"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Odds+Ratio" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Odds Ratio"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term="&quot;Odds Ratio&quot;[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label="&quot;Odds Ratio&quot;[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major" aria-label="Toggle dropdown menu for keyword Sequence Analysis, DNA / standards*" tabindex="0" aria-controls="keyword-actions-mesh-terms-major-7" aria-expanded="false" data-pinger-ignore> Sequence Analysis, DNA / standards* </button><div id="keyword-actions-mesh-terms-major-7" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Sequence Analysis, DNA / standards*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Sequence+Analysis%2C+DNA%2Fstandards%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22Sequence+Analysis%2C+DNA%2Fstandards%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Sequence Analysis, DNA/standards&quot;[MAJR]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Sequence Analysis, DNA / standards*"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Sequence+Analysis%2C+DNA" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Sequence Analysis, DNA / standards*"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term="&quot;Sequence Analysis, DNA/standards&quot;[MAJR]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label="&quot;Sequence Analysis, DNA/standards&quot;[MAJR]" href="#"> Add to Search </a></li></ul></div></div></div></li></ul> </div> <div id="related-links" class="related-links"> <h2 class="title"> Related information </h2> <ul class="related-links-list"><li><a title="PubMed links associated with Books" href="https://www.ncbi.nlm.nih.gov/books?linkname=pubmed_books_refs&amp;from_uid=25741868" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25741868&ordinalpos=1&linkpos=1"> Cited in Books </a></li><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&amp;from_uid=25741868" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25741868&ordinalpos=1&linkpos=2"> ClinVar </a></li><li><a title="Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_bookshelf_cited&amp;from_uid=25741868" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25741868&ordinalpos=1&linkpos=3"> MedGen (Bookshelf cited) </a></li><li><a title="OMIM (cited) Links" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_cited&amp;from_uid=25741868" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25741868&ordinalpos=1&linkpos=4"> OMIM (cited) </a></li><li><a title="PubMed to SNP links" href="https://www.ncbi.nlm.nih.gov/snp?linkname=pubmed_snp&amp;from_uid=25741868" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25741868&ordinalpos=1&linkpos=5"> SNP </a></li><li><a title="Related dbGaP record" href="https://www.ncbi.nlm.nih.gov/gap?linkname=pubmed_gap&amp;from_uid=25741868" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25741868&ordinalpos=1&linkpos=6"> dbGaP </a></li><li><a title="Link from PubMed to dbVar" href="https://www.ncbi.nlm.nih.gov/dbvar?linkname=pubmed_dbvar&amp;from_uid=25741868" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=25741868&ordinalpos=1&linkpos=7"> dbVar </a></li></ul> </div> <div id="grants" class="grants"> <h2 class="title"> Grants and funding </h2> <div class="grants-list"><ul id="grants-head-list"><li class="grant-item"><a title="All articles for grant U24 HG006834/HG/NHGRI NIH HHS/United States" href="/?term=U24+HG006834%2FHG%2FNHGRI+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=grant_link" data-ga-category="search" data-ga-action="grant" data-ga-label="U24 HG006834" > U24 HG006834/HG/NHGRI NIH HHS/United States </a></li><li class="grant-item"><a title="All articles for grant U41 HG006834/HG/NHGRI NIH HHS/United States" href="/?term=U41+HG006834%2FHG%2FNHGRI+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=grant_link" data-ga-category="search" data-ga-action="grant" data-ga-label="U41 HG006834" > U41 HG006834/HG/NHGRI NIH HHS/United States </a></li><li class="grant-item"><a title="All articles for grant U19 HD077671/HD/NICHD NIH HHS/United States" href="/?term=U19+HD077671%2FHD%2FNICHD+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=grant_link" data-ga-category="search" data-ga-action="grant" data-ga-label="U19 HD077671" > U19 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