ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4624-8G>A

gnomAD frequency: 0.00010  dbSNP: rs529345041
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724509 SCV000229894 uncertain significance not provided 2015-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000177932 SCV000512457 benign not specified 2015-04-29 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 RCV001089322 SCV001017468 likely benign Long QT syndrome 2024-09-21 criteria provided, single submitter clinical testing

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