ClinVar Miner

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

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246266 SCV000317421 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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000039421 SCV000051523 benign not specified 2013-06-24 criteria provided, single submitter research
Color RCV000776014 SCV000910557 benign Cardiomyopathy 2018-03-19 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000460762 SCV000733772 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 no assertion criteria provided 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
Illumina Clinical Services Laboratory,Illumina RCV000029664 SCV000408094 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 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
Invitae RCV000460762 SCV000561692 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-08-18 criteria provided, single submitter clinical testing
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 RCV000039421 SCV000314302 benign not specified criteria provided, single submitter clinical testing

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