ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4727-9G>A

gnomAD frequency: 0.00011  dbSNP: rs757966245
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704239 SCV000223305 likely benign not provided 2018-10-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315543 SCV000377876 uncertain significance Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370158 SCV000377877 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000631792 SCV000752884 likely benign Long QT syndrome 2024-01-19 criteria provided, single submitter clinical testing

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