Submissions for variant NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)

gnomAD frequency: 0.00460  dbSNP: rs34563188

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080474	SCV000112376	benign	not specified	2013-08-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000080474	SCV000235830	benign	not specified	2014-11-03	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	RCV000080474	SCV000268948	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Ser666Leu in exon 17 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 1.6% (61/3833) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs34563188).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084848	SCV000288047	benign	Duchenne muscular dystrophy	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000250691	SCV000319108	benign	Cardiovascular phenotype	2015-04-20	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000711450	SCV000603366	benign	not provided	2021-11-09	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711450	SCV000841817	benign	not provided	2018-08-09	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000853044	SCV000995801	benign	Cardiomyopathy	2019-02-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001165928	SCV001328186	uncertain significance	Dilated cardiomyopathy 3B	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000080474	SCV004038128	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000711450	SCV001932818	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000080474	SCV001975493	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001826731	SCV002092201	benign	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2020-04-11	no assertion criteria provided	clinical testing