ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1347A>G (p.Pro449=)

gnomAD frequency: 0.00001  dbSNP: rs1157738158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001492662 SCV001697279 likely benign Arrhythmogenic right ventricular dysplasia 11 2022-06-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524599 SCV001734520 likely benign Cardiomyopathy 2020-09-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282405 SCV002570944 likely benign not specified 2022-07-02 criteria provided, single submitter clinical testing

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