ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1509-12T>G

gnomAD frequency: 0.00009  dbSNP: rs200412525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498274 SCV000590277 uncertain significance not provided 2021-07-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown
Invitae RCV002060088 SCV002461636 likely benign Long QT syndrome 2024-01-29 criteria provided, single submitter clinical testing

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