Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines

Cristina Fortuno, Michael Parsons, PhD, Jill Dolinsky, Tina Pesaran, MA, MS, CGC, Amal Yussuf, Jessica L Mester, Kathleen S. Hruska, Susan Hiraki, Robert O’Connor, Raymond C Chan, Serra Kim, Sean V. Tavtigian, David Goldgar, Paul A. James, Amanda B. Spurdle