ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1026C>T (p.Gly342=)

gnomAD frequency: 0.00001  dbSNP: rs752842357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001361450 SCV001557426 likely benign Long QT syndrome 2023-08-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488100 SCV002800182 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-09-20 criteria provided, single submitter clinical testing

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