ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5779C>A (p.Leu1927Met)

gnomAD frequency: 0.00001  dbSNP: rs754166849
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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 RCV001995328 SCV002253415 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-10-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492184 SCV002804010 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-11-27 criteria provided, single submitter clinical testing

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