ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser) (rs3827462)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080576 SCV000112478 benign not specified 2013-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000080576 SCV000168175 benign not specified 2014-04-07 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.
CSER _CC_NCGL, University of Washington RCV000211434 SCV000212214 likely benign Primary dilated cardiomyopathy 2015-03-11 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000080576 SCV000268955 benign not specified 2015-06-04 criteria provided, single submitter clinical testing p.Thr1136Ser in exon 25 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 7% (451/6490) of South Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3827462).
Ambry Genetics RCV000249350 SCV000318913 benign Cardiovascular phenotype 2016-06-24 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000313769 SCV000482265 likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000470917 SCV000560870 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991899 SCV001143747 benign not provided 2019-04-10 criteria provided, single submitter clinical testing

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