ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.222A>T (p.Arg74=)

dbSNP: rs553682728
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419374 SCV000512474 likely benign not specified 2015-11-18 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.
Athena Diagnostics RCV000419374 SCV001474891 benign not specified 2020-02-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001509604 SCV001716422 benign Idiopathic generalized epilepsy 2022-09-01 criteria provided, single submitter clinical testing

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