ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.222T>C (p.His74=)

gnomAD frequency: 0.00001  dbSNP: rs367797047
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037284 SCV000060941 likely benign not specified 2010-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001529444 SCV000732236 likely benign not provided 2019-09-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001177315 SCV001341509 likely benign Cardiomyopathy 2020-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001451075 SCV001654695 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-10-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037284 SCV004038085 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996313 SCV004819426 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004609297 SCV005117128 likely benign Cardiovascular phenotype 2024-04-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529444 SCV001742914 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037284 SCV001923659 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529444 SCV001926303 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037284 SCV001957652 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529444 SCV001969316 likely benign not provided no assertion criteria provided clinical testing

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