ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.877A>G (p.Ile293Val) (rs2230234)

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Total submissions: 10
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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 RCV000037319 SCV000051526 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037319 SCV000060976 benign not specified 2008-01-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037319 SCV000308563 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000254391 SCV000318047 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;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037319 SCV000333230 benign not specified 2015-08-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260352 SCV000408221 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281917 SCV000883742 benign none provided 2020-08-21 criteria provided, single submitter clinical testing
Color Health, Inc RCV000771063 SCV000902574 benign Cardiomyopathy 2018-04-08 criteria provided, single submitter clinical testing
Invitae RCV000260352 SCV001722606 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-12-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000037319 SCV001741962 benign not specified no assertion criteria provided clinical testing

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