Submissions for variant NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)

gnomAD frequency: 0.00208  dbSNP: rs143184877

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000223431	SCV000112499	likely benign	not specified	2015-04-11	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223431	SCV000270128	likely benign	not specified	2015-10-22	criteria provided, single submitter	clinical testing	p.Arg1324Cys in exon 29 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (64/8493) of African chromosom es by the Exome Aggregation Consortium, including 8 hemizygous individuals (ExAC , http://exac.broadinstitute.org; rs143184877).
Ambry Genetics	RCV000250502	SCV000320674	benign	Cardiovascular phenotype	2018-06-29	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
GeneDx	RCV000223431	SCV000526588	benign	not specified	2017-01-06	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	RCV000990674	SCV000560868	benign	Duchenne muscular dystrophy	2024-01-26	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000223431	SCV000613119	benign	not specified	2017-03-31	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000853041	SCV000995798	likely benign	Cardiomyopathy	2018-05-23	criteria provided, single submitter	clinical testing
Mendelics	RCV000990674	SCV001141696	likely benign	Duchenne muscular dystrophy	2019-05-28	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000223431	SCV001433475	likely benign	not specified	2020-01-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528811	SCV001477528	likely benign	not provided	2020-08-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000223431	SCV002103718	likely benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528811	SCV001741197	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000223431	SCV001970312	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001826748	SCV002085382	benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2019-08-02	no assertion criteria provided	clinical testing