Submissions for variant NM_004006.3(DMD):c.8706G>A (p.Arg2902=)

gnomAD frequency: 0.00013  dbSNP: rs899851642

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000591589	SCV000704727	uncertain significance	not provided	2017-01-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084887	SCV001008865	likely benign	Duchenne muscular dystrophy	2024-12-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003343932	SCV004050855	likely benign	Cardiovascular phenotype	2023-08-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc.	RCV001834887	SCV002080253	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2020-04-15	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543352	SCV004772195	likely benign	DMD-related disorder	2019-11-21	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).