ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2530+13C>T

gnomAD frequency: 0.00055  dbSNP: rs374170716
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418273 SCV000512449 benign not specified 2016-05-17 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 RCV002058886 SCV002327551 benign Long QT syndrome 2024-01-22 criteria provided, single submitter clinical testing

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