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

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

Purpose: The ClinGen RASopathy (RAS) Variant Curation Expert Panel (VCEP) previously established RASopathy specifications to the American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) variant classification framework for more consistent and accurate var...

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Main Authors: Emma H. Wilcox, Ryan F. Webb, Kezang C. Tshering, Madeline Y. Hughes, Hélène Cavé, 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, Bruce Gelb, Jennifer Lee, Karen Gripp, Kat Lafferty, Kezang Tshering, Lisa Vincent, Luis Enrique Gomez, Marina DiStefano, Reza Ahmadian, Ryan Webb
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Subjects:
ClinGen
Noonan
Ras/MAPK
RASopathy
Variant interpretation
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425014694
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