ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.111A>G (p.Leu37=) (rs12954874)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253441 SCV000317775 benign Cardiovascular phenotype 2015-03-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Color RCV000775999 SCV000910530 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000614345 SCV000744773 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000614345 SCV000733783 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 no assertion criteria provided clinical testing
GeneDx RCV000039403 SCV000168229 benign not specified 2013-03-20 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000614345 SCV000743501 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2014-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291000 SCV000408107 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039403 SCV000063087 benign not specified 2011-06-08 criteria provided, single submitter clinical testing This variant is considered to be benign because it does not change an amino acid and is frequent in the general population (rs12954874; MAF>1%)
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845337 SCV000987383 benign not provided criteria provided, single submitter clinical testing
PreventionGenetics RCV000039403 SCV000314298 benign not specified criteria provided, single submitter clinical testing

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