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Article

Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism.

Clinical genetics - 1 Mar 2025

Leon-Quintero Fernando Zazueta, Bowling Kevin M, Dickson Alexa, Corliss Meagan M, Schroeder Molly C, Neidich Julie A, Heusel Jonathan W, Krysiak Kilannin, Polonis Katarzyna, Parikh Bijal A, Cao Yang

Abstract excerpt

Disorders of somatic mosaicism (DoSMs) are rare genetic disorders arising from postzygotic alteration leading to segmental/nonsegmental disease. Current professional guidelines for standardized variant interpretation focus on germline and cancer variants, making them suboptimal for DoSM variant interpretation. The Brain Malformations Variant Curation Expert Panel (BMVCEP) modified existing guidelines to account...

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PMID: 39434542
DOI: 10.1111/cge.14636

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