Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Michael G. Anderson, Windy Berkofsky‐Fessler, Sandrine M. Caputo, Raymond C. Chan, Melissa Cline, Bing Feng, Cristina Fortuño, Encarna B. Gómez-García, Johanna S. Hadler, Susan C. Hiraki, Megan A. Holdren, , Amanda B. Spurdle
The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.
The American Journal of Human Genetics · Aug 13, 2024Peer-reviewedGenetic & Genomic Medicine