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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 Anderson,Windy Berkofsky-Fessler,Sandrine M. Caputo,Raymond C. Chan,Melissa S. Cline,Bing-Jian Feng,Cristina Fortuno,Encarna Gomez-Garcia,Johanna Hadler,Susan Hiraki,Megan Holdren,Claude Houdayer,Kathleen Hruska,Paul James,Rachid Karam,Huei San Leong,Alexandra Martins,Arjen R. Mensenkamp,Alvaro N. Monteiro, Vaishnavi Nathan, Robert O'Connor,Inge Sokilde Pedersen,Tina Pesaran, Paolo Radice,Gunnar Schmidt,Melissa Southey,Sean Tavtigian,Bryony A. Thompson,Amanda E. Toland,Clare Turnbull, Maartje J. Vogel, Jamie Weyandt,George A. R. Wiggins,Lauren Zec,Fergus J. Couch,Logan C. Walker,Maaike P. G. Vreeswijk,David E. Goldgar,Amanda B. Spurdle

The American Journal of Human Genetics（2024）

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关键词
BRCA1,BRCA2,ClinGen,VCEP,ACMG/AMP variant curation guidelines,ClinVar
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