ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.186C>T (p.Ser62=)

gnomAD frequency: 0.00008  dbSNP: rs371263141
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288059 SCV001474890 benign not specified 2020-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001403190 SCV001605054 likely benign Idiopathic generalized epilepsy 2022-06-03 criteria provided, single submitter clinical testing

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