ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.222T>C (p.His74=) (rs367797047)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037284 SCV000060941 likely benign not specified 2010-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000037284 SCV000732236 likely benign not specified 2017-11-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Health, Inc RCV001177315 SCV001341509 likely benign Cardiomyopathy 2020-03-17 criteria provided, single submitter clinical testing
Invitae RCV001451075 SCV001654695 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-09-22 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529444 SCV001742914 likely benign not provided no assertion criteria provided clinical testing

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