ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6282C>G (p.Leu2094=)

gnomAD frequency: 0.00002  dbSNP: rs1337662531
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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 RCV002090695 SCV002372676 likely benign Long QT syndrome 2024-08-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498299 SCV002810629 likely benign Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-08-11 criteria provided, single submitter clinical testing

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