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

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Date: September 8, 2025
Authors:
Bradley Williams, Bruce D. Gelb, Emma H. Wilcox, Hannah Dziadzio, Hannah McCurry, Heather Mason-Suares, Helene Cave, Jennifer A. Lee, Karen W Gripp, Kate Garber, Kezang C. Tshering, Lisa M. Vincent, Madeline Y. Hughes, Marco Tartaglia, Marina T. DiStefano, Martin Zenker, Ryan F. Webb, Shoji Ichikawa
Journal: Genetics In Medicine Open