ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.776-12T>G

gnomAD frequency: 0.00004  dbSNP: rs397517403
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Total submissions: 4
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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 RCV000039439 SCV000063123 uncertain significance not specified 2020-08-04 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Color Diagnostics, LLC DBA Color Health RCV001181342 SCV001346468 likely benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054761 SCV002399425 likely benign Arrhythmogenic right ventricular dysplasia 11 2024-11-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996446 SCV004816410 likely benign Familial isolated arrhythmogenic right ventricular dysplasia 2024-01-11 criteria provided, single submitter clinical testing

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