Submissions for variant NM_004006.3(DMD):c.2884C>G (p.Leu962Val)

gnomAD frequency: 0.00024  dbSNP: rs150959827

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000247467	SCV000320012	likely benign	Cardiovascular phenotype	2019-06-25	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	RCV000545266	SCV000625885	benign	Duchenne muscular dystrophy	2025-01-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000593944	SCV000707460	likely benign	not specified	2017-04-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001541619	SCV001759638	likely benign	not provided	2019-08-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001541619	SCV004164742	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	DMD: BP4, BS2
Natera, Inc.	RCV001833292	SCV002089661	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2019-08-02	no assertion criteria provided	clinical testing