ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6027C>T (p.Leu2009=)

gnomAD frequency: 0.00001  dbSNP: rs766357140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635151 SCV000756529 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499064 SCV002808330 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-30 criteria provided, single submitter clinical testing

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