ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.82-10A>G

gnomAD frequency: 0.00001  dbSNP: rs1437170752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615142 SCV000723665 likely benign not specified 2018-01-11 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.
All of Us Research Program, National Institutes of Health RCV004807031 SCV005427552 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005056303 SCV005717829 likely benign Arrhythmogenic right ventricular dysplasia 10 2024-04-04 criteria provided, single submitter clinical testing

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