ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4741C>G (p.Leu1581Val)

gnomAD frequency: 0.00031  dbSNP: rs755918582
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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 RCV001351113 SCV001545553 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005014471 SCV005643035 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-03-12 criteria provided, single submitter clinical testing

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