Submissions for variant NM_004006.3(DMD):c.2745A>C (p.Thr915=)

gnomAD frequency: 0.00113  dbSNP: rs149922633

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176204	SCV000227819	likely benign	not specified	2015-02-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000176204	SCV000512809	benign	not specified	2015-04-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000463939	SCV000560869	benign	Duchenne muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619554	SCV000736626	likely benign	Cardiovascular phenotype	2016-06-27	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003736621	SCV004563241	likely benign	not provided	2023-09-28	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001826891	SCV002089679	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2017-04-20	no assertion criteria provided	clinical testing