ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) (rs2278792)

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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 RCV000037285 SCV000051529 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037285 SCV000060942 benign not specified 2007-11-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037285 SCV000308554 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242776 SCV000317423 benign Cardiovascular phenotype 2015-03-11 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 RCV000383454 SCV000408246 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 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.
Color Health, Inc RCV000775993 SCV000910520 benign Cardiomyopathy 2018-04-08 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000037285 SCV001433063 benign not specified 2019-07-04 criteria provided, single submitter clinical testing
Invitae RCV000383454 SCV001729154 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-12-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000037285 SCV001744354 benign not specified no assertion criteria provided clinical testing

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