ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1114-487A>G

gnomAD frequency: 0.50604  dbSNP: rs1008832
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830991 SCV000972730 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001079848 SCV001000924 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554439 SCV001775684 benign Timothy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830991 SCV005234226 benign not provided criteria provided, single submitter not provided

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