ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.1116+18T>C

gnomAD frequency: 0.01581  dbSNP: rs115324887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124116 SCV000167525 benign not specified 2013-03-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055447 SCV002354932 benign Idiopathic generalized epilepsy 2023-10-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707998 SCV005238945 benign not provided criteria provided, single submitter not provided

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