ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3321T>C (p.Val1107=) (rs1791235)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037303 SCV000060960 benign not specified 2008-01-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037303 SCV000308558 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000249672 SCV000317611 benign Cardiovascular phenotype 2015-03-09 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.
Illumina Clinical Services Laboratory,Illumina RCV000320154 SCV000408271 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 RCV000771038 SCV000902539 benign Cardiomyopathy 2018-04-08 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000037303 SCV001433176 benign not specified 2019-10-09 criteria provided, single submitter clinical testing
Invitae RCV000320154 SCV001729156 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-12-08 criteria provided, single submitter clinical testing

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