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Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels

Specialty Areas:

Date: September 8, 2025

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

Journal: Genetics In Medicine Open

Collaborators:

Broad Institute of MIT and Harvard

Brown University

Emory University

Greenwood Genetic Center

Icahn School of Medicine at Mount Sinai

Nemours Children's Hospital

Ospedale Pediatrico Bambino Gesù, IRCCS

Université Paris Cité

University Hospital Magdeburg