ClinVar Miner

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

dbSNP: rs2230234
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Total submissions: 16
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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, Mass General Brigham Personalized Medicine RCV000037319 SCV000060976 benign not specified 2008-01-04 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences 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 This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) RCV000037319 SCV000333230 benign not specified 2015-08-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260352 SCV000408221 benign Arrhythmogenic right ventricular dysplasia 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 RCV001705672 SCV000883742 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771063 SCV000902574 benign Cardiomyopathy 2018-04-08 criteria provided, single submitter clinical testing
Invitae RCV000260352 SCV001722606 benign Arrhythmogenic right ventricular dysplasia 10 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001705672 SCV001849954 benign not provided 2018-11-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33232181, 30716529, 27884173, 18678517, 27153395, 19863551, 16025435, 21397041, 24125834)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000037319 SCV001741962 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037319 SCV001921771 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037319 SCV001930003 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037319 SCV001956275 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037319 SCV001974243 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV000771063 SCV003802738 benign Cardiomyopathy 2022-09-23 no assertion criteria provided clinical testing

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