Submissions for variant NM_004006.3(DMD):c.1513G>C (p.Val505Leu)

gnomAD frequency: 0.00113  dbSNP: rs140340626

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080457	SCV000112359	benign	not specified	2013-05-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001573329	SCV000235827	benign	not provided	2020-07-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15643612, 14695533, 31443951)
Invitae	RCV000463358	SCV000560863	likely benign	Duchenne muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618933	SCV000736222	likely benign	Cardiovascular phenotype	2019-03-29	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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000853045	SCV000995802	benign	Restrictive cardiomyopathy	2018-01-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001167509	SCV001330016	benign	Dilated cardiomyopathy 3B	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573329	SCV001472534	benign	not provided	2020-02-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000080457	SCV002015007	likely benign	not specified	2021-10-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537354	SCV004736127	likely benign	DMD-related disorder	2020-02-25	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573329	SCV001799035	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573329	SCV001928520	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573329	SCV001965729	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001826727	SCV002090360	likely benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2017-08-09	no assertion criteria provided	clinical testing