Submissions for variant NM_004006.3(DMD):c.8829G>A (p.Thr2943=)

gnomAD frequency: 0.00008  dbSNP: rs150766816

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724978	SCV000332873	uncertain significance	not provided	2015-07-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000724978	SCV000727475	likely benign	not provided	2019-05-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001468477	SCV001672531	likely benign	Duchenne muscular dystrophy	2023-12-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374454	SCV002683400	likely benign	Cardiovascular phenotype	2020-09-28	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.
CeGaT Center for Human Genetics Tuebingen	RCV000724978	SCV004164717	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	DMD: BP4, BP7
Natera, Inc.	RCV001828183	SCV002080233	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2019-02-26	no assertion criteria provided	clinical testing