Submissions for variant NM_004006.3(DMD):c.10836C>T (p.Ser3612=)

gnomAD frequency: 0.00033  dbSNP: rs148590546

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000619788	SCV000736546	likely benign	Cardiovascular phenotype	2016-02-01	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000630591	SCV000751556	benign	Duchenne muscular dystrophy	2024-01-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000732266	SCV000860191	likely benign	not specified	2018-03-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001683611	SCV001903510	benign	not provided	2020-04-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000732266	SCV005039458	benign	not specified	2024-03-12	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001834966	SCV002077578	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2020-07-30	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533273	SCV004713478	likely benign	DMD-related disorder	2023-06-13	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).