ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6378C>T (p.Ala2126=)

gnomAD frequency: 0.00002  dbSNP: rs780808265
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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 RCV001437420 SCV001640273 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501544 SCV002804460 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-01-22 criteria provided, single submitter clinical testing

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