ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.216+16G>A

gnomAD frequency: 0.00073  dbSNP: rs200239610
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124792 SCV000168231 benign not specified 2014-04-27 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000124792 SCV002103659 benign not specified 2022-02-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055524 SCV002362308 likely benign Arrhythmogenic right ventricular dysplasia 10 2025-01-30 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000124792 SCV001923853 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701608 SCV001929771 likely benign not provided no assertion criteria provided clinical testing

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