Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

Ada Esteban-Sánchez, Alessandra Viel, Amanda B Spurdlee, Amanda Hamblett, Ana Vega, Barbara Wappenschmidt, Bing-Jian Feng, Blair R. Conner, Brage S Andresen, Christian F. Singer, Christoph Engel, Conxi Lazaro, Daffodil Canson, Daniela Muhr, Dave Bunyan, David E. Goldgar, Diana Baralle, Emma Tudini, Eva Macháčková, Fabienne M G R Calléja, Holly Laduca, Inge S Pedersen, Kathleen B M Claes, Lesley Andrews, Lily Hoang, Lise L Christensen, Logan C. Walker, Maaike P.G. Vreeswijk, Mads Thomassen, Marcy E. Richardson, Maria Rossing, Marta Santamarina, Michael T. Parsons, Miguel de la Hoya, Mireia Menendez, Nelly Abualkheir, Paolo Radice, Paul A. James, Pål Møller, Rachid Karam, PhD, Rita Brandao, Romy L.S. Mesman, Soo H Teo, Therese Törngren, Thomas v O Hansen, Tina Pesaran, MA, MS, CGC, Torben A Kruse, Uffe B. Jensen, Åke Borg