ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) (rs1893963)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000039420 SCV000051524 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039420 SCV000063104 benign not specified 2007-11-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039420 SCV000314301 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000250993 SCV000317422 benign Cardiovascular phenotype 2015-06-21 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
Illumina Clinical Services Laboratory,Illumina RCV000313746 SCV000408096 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000611360 SCV000743491 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000611360 SCV000744757 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2015-09-21 criteria provided, single submitter clinical testing
Color RCV000776000 SCV000910533 benign Cardiomyopathy 2018-03-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000611360 SCV000733774 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 no assertion criteria provided clinical testing

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