ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5277G>A (p.Ser1759=)

gnomAD frequency: 0.00004  dbSNP: rs371931644
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458172 SCV000562931 likely benign Long QT syndrome 2023-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001672800 SCV001892009 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489135 SCV002803175 likely benign Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-07-28 criteria provided, single submitter clinical testing

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