ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4829-7G>A

gnomAD frequency: 0.00194  dbSNP: rs137904817
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124088 SCV000167497 benign not specified 2013-11-25 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.
Eurofins Ntd Llc (ga) RCV000124088 SCV000335171 benign not specified 2015-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000465546 SCV000562892 benign Long QT syndrome 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003389755 SCV004132346 benign not provided 2023-05-01 criteria provided, single submitter clinical testing CACNA1C: BP4, BS1, BS2

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