ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1835A>T (p.Asn612Ile)

dbSNP: rs773099504
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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 RCV001895706 SCV002148424 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-10-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503478 SCV002812131 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-09 criteria provided, single submitter clinical testing

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