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 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 RCV000611360 SCV000408096 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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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