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

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