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<b>Types of sequence variants that may be detected <sup>1</sup></b>
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</p><ul><li class="half_rhythm"><div>Pathogenic sequence variants reported in the literature</div></li><li class="half_rhythm"><div>Sequence variants predicted to be pathogenic but not reported in the literature</div></li><li class="half_rhythm"><div>Variants of unknown clinical significance <sup>2</sup></div></li><li class="half_rhythm"><div>Sequence variants predicted to be likely benign but not reported in the literature</div></li><li class="half_rhythm"><div>Benign sequence variants reported in the literature or in population databases</div></li></ul><p>
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<b>Possibilities when a sequence variant is not detected</b>
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</p><ul><li class="half_rhythm"><div>Patient does not have a pathogenic variant in the tested gene (e.g., a sequence variant exists in another gene at another locus).</div></li><li class="half_rhythm"><div>Patient has a sequence variant that cannot be detected by sequence analysis (e.g., a large deletion).</div></li><li class="half_rhythm"><div>Patient has a sequence variant in a region of the gene (e.g., an intron or regulatory region) not covered by the laboratory's test.</div></li></ul><p>1. Adapted from <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544753/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">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</a> [2015]</p><p>2. Family studies may be used to determine if a sequence variant segregates with the phenotype or occurred <i>de novo</i>.</p><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK6851_pubdet_">Publication Details</h2><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">April 5, 2007</span>; Last Revision: <span itemprop="dateModified">May 19, 2016</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
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a registered trademark of the University of Washington, Seattle. All rights
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reserved.<p class="small">GeneReviews® chapters are owned by the University of Washington. Permission is
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contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Appendix: Interpretation of Sequence Analysis Results. 2007 Apr 5 [Updated 2016 May 19].<span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gene/app1/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/app3/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
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