ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.50-147C>T

gnomAD frequency: 0.01380  dbSNP: rs112230077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000860629 SCV001000738 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001593062 SCV001816323 likely benign not provided 2018-07-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001593062 SCV005213021 likely benign not provided criteria provided, single submitter not provided

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