Submissions for variant NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys)

gnomAD frequency: 0.00004  dbSNP: rs398123931

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080568	SCV000112470	uncertain significance	not provided	2015-05-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001257055	SCV000560847	benign	Duchenne muscular dystrophy	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000080568	SCV001750669	benign	not provided	2021-06-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31671740)
Ambry Genetics	RCV002321577	SCV002610770	likely benign	Cardiovascular phenotype	2019-03-22	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	RCV000080568	SCV003799701	benign	not provided	2022-05-04	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000080568	SCV003830050	uncertain significance	not provided	2021-12-18	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001826743	SCV002085478	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2019-08-02	no assertion criteria provided	clinical testing