ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) (rs16998350)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080481 SCV000112383 benign not specified 2014-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000080481 SCV000235831 benign not specified 2014-09-23 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, Partners HealthCare Personalized Medicine RCV000080481 SCV000268949 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Thr715Ser in exon 17 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 1.5% (57/3833) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs16998350).
Invitae RCV001082573 SCV000288048 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244216 SCV000318388 benign Cardiovascular phenotype 2015-12-02 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification;Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000514008 SCV000603348 benign not provided 2018-06-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514008 SCV000609906 benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000514008 SCV000987525 likely benign not provided criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001168817 SCV001331445 benign 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). 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.

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