ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4727-231T>C

gnomAD frequency: 0.76028  dbSNP: rs7136355
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000831020 SCV000972759 benign not provided 2018-06-14 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 RCV001081105 SCV001000311 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554543 SCV001775797 benign Timothy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000831020 SCV005234718 benign not provided criteria provided, single submitter not provided

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