Article

Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel

2024-05-14

Abstract excerpt

<h4>Background</h4> It is known that gene- and disease-specific evidence domains can potentially improve the capability of the ACMG/AMP classification criteria to categorize pathogenicity for variants. We aimed to include gene–disease-specific clinical, predictive, and functional domain specifications to the ACMG/AMP criteria with respect to MMR genes. <h4>Methods</h4> Starting with the original criteria (InSiGH...

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Literature Corpus work: 5a78de55-6b0d-5813-9003-1a7c32afbff6
DOI: 10.1101/2024.05.13.24307108

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