Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines
Authors: Cristina Fortuno; Michael Parsons; Jill S Dolinsky; Tina Pesaran; 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
Collaborators: Color Genomics; Cyprus Institute of Neurology and Genetics; GeneDx; Peter MacCallum Cancer Centre and Royal Melbourne Hospital; QIMR Berghofer Medical Research Institute; The University of Queensland; University of Melbourne; University of Utah