ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1114-145A>G

gnomAD frequency: 0.01517  dbSNP: rs114000334
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000834889 SCV000976661 likely benign not provided 2018-06-16 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 RCV001083532 SCV001000565 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing

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