Article

ClinGen <i>CDH1</i> specifications for the ACMG/AMP guidelines: improvement of germline variant clinical assertions and updated curation guidelines

2021-11-02

Abstract excerpt

<h4>Purpose</h4> The Clinical Genome Resource (ClinGen) CDH1 Variant Curation Expert Panel (VCEP) developed specifications for CDH1 variant curation with a goal to resolve variants of uncertain significance (VUS) and with ClinVar conflicting interpretations for effective medical care. In addition, the CDH1 VCEP continues to update these specifications in keeping with evolving clinical practice and variant interpre...

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Literature Corpus work: 650b6a30-cce2-5666-adf8-32627cbc873e
DOI: 10.1101/2021.11.01.21265332

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