Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels
Authors: Emma H. Wilcox; Ryan F. Webb; Kezang C. Tshering; Madeline Y. Hughes; Helene Cave; Marina T. DiStefano; Hannah Dziadzio; Kate Garber; Bruce D. Gelb; Karen W. Gripp; Shoji Ichikawa; Jennifer A. Lee; Hannah McCurry; Marco Tartaglia; Bradley Williams; Martin Zenker; Lisa M. Vincent; Heather Mason-Suares
Collaborators: Broad Institute of MIT and Harvard; Brown University; Emory University; Greenwood Genetic Center; Icahn School of Medicine at Mount Sinai; Mass General Brigham Laboratory for Molecular Medicine; Nemours Children's Hospital; Ospedale Pediatrico Bambino Gesù, IRCCS; Université Paris Cité; University Hospital Magdeburg