Submissions for variant NM_004006.3(DMD):c.4878G>T (p.Val1626=)

gnomAD frequency: 0.02120  dbSNP: rs61733574

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000150067	SCV000112534	benign	not specified	2016-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000150067	SCV000168183	benign	not specified	2014-01-27	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150067	SCV000268961	benign	not specified	2015-03-20	criteria provided, single submitter	clinical testing	p.Val1626Val in exon 35 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 7.0% (596/8489) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs61733574).
PreventionGenetics, part of Exact Sciences	RCV000150067	SCV000309935	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000247315	SCV000318386	benign	Cardiovascular phenotype	2016-03-26	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000387177	SCV000482249	benign	Dilated cardiomyopathy 3B	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083562	SCV000560807	benign	Duchenne muscular dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711460	SCV000841828	benign	not provided	2017-12-06	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000711460	SCV000885289	benign	not provided	2023-09-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000150067	SCV002511674	benign	not specified	2022-04-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000711460	SCV005276012	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000150067	SCV001744567	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000711460	SCV001800211	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001826750	SCV002093563	benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2017-04-21	no assertion criteria provided	clinical testing