ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2648T>G (p.Phe883Cys)

gnomAD frequency: 0.00001  dbSNP: rs374178074
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678702 SCV000804866 uncertain significance Left ventricular hypertrophy 2015-11-04 no assertion criteria provided clinical testing

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