ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.478-19T>G

gnomAD frequency: 0.00004  dbSNP: rs571558332
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124064 SCV000167473 benign not specified 2014-05-18 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.
Invitae RCV002055438 SCV002485756 benign Long QT syndrome 2024-01-20 criteria provided, single submitter clinical testing

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