Article

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

2024-01-23

Abstract excerpt

The ENIGMA research consortium ( https://enigmaconsortium.org/ ) develops and applies methods to determine clinical significance of variants in Hereditary Breast and Ovarian Cancer genes. An ENIGMA BRCA1/2 classification sub-group, originally formed in 2016 as a ClinGen external expert panel, evolved into a ClinGen internal Variant Curation Expert Panel (VCEP) to align with Federal Drug Administration recognized p...

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Literature Corpus work: 339c7ec1-78f7-5907-9f10-4acbf3e14ed8
DOI: 10.1101/2024.01.22.24301588

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