ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6991T>C (p.Cys2331Arg)

gnomAD frequency: 0.00001  dbSNP: rs753077813
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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 RCV001067616 SCV001232684 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480427 SCV002800717 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-09-23 criteria provided, single submitter clinical testing

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