ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1114-438T>G

gnomAD frequency: 0.00825  dbSNP: rs148469662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000834888 SCV000976660 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 RCV001083533 SCV001001103 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000834888 SCV005213550 likely benign not provided criteria provided, single submitter not provided

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