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Systematic large-scale application of ClinGen InSiGHT<i>APC</i>-specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases

2024-05-04

Abstract excerpt

<h4>Background</h4> Pathogenic constitutional APC variants underlie familial adenomatous polyposis, the most common hereditary gastrointestinal polyposis syndrome. To improve variant classification and resolve the interpretative challenges of variants of uncertain significance (VUS), APC-specific ACMG/AMP variant classification criteria were developed by the ClinGen-InSiGHT Hereditary Colorectal Cancer/Polyposis V...

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Literature Corpus work
b7bc7bec-75f7-5023-9480-1ffd837df7b7
DOI
10.1101/2024.05.03.24306761
Open publication

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Systematic large-scale application of ClinGen InSiGHT<i>APC</i>-specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databasesDOI 10.1101/2024.05.03.24306761
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