ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) (rs61731921)

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Total submissions: 12
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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 RCV000039421 SCV000051523 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039421 SCV000063105 benign not specified 2010-05-03 criteria provided, single submitter clinical testing Classified as benign due to high allele frequency reported in literature (Posch et al. 2008; 7.2%)
PreventionGenetics,PreventionGenetics RCV000039421 SCV000314302 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000246266 SCV000317421 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 RCV000460762 SCV000408094 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2018-03-06 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.
Invitae RCV000460762 SCV000561692 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000460762 SCV000743489 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000460762 SCV000744755 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2015-09-21 criteria provided, single submitter clinical testing
Color RCV000776014 SCV000910557 benign Cardiomyopathy 2018-03-19 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000039421 SCV001433062 benign not specified 2020-05-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029664 SCV000052316 benign Arrhythmogenic right ventricular cardiomyopathy 2011-11-18 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000460762 SCV000733772 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 no assertion criteria provided clinical testing

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