ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence

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Date: June 26, 2025
Authors:
Lobna Ramadane-Morchadi, Nitsan Rotenberg, Ada Esteban-Sánchez, Cristina Fortuno, Alicia Gómez-Sanz, Matthew J. Varga, Adam Chamberlin, Marcy E. Richardson, Kyriaki Michailidou, Pedro Pérez-Segura, Amanda B. Spurdle, Miguel de la Hoya
Journal: American Journal of Human Genetics