ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.379-4T>C

gnomAD frequency: 0.00001  dbSNP: rs753141182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002066001 SCV002361964 likely benign Arrhythmogenic right ventricular dysplasia 10 2024-01-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532318 SCV004363159 likely benign Cardiomyopathy 2022-01-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003203 SCV004832924 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing

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