ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5940G>T (p.Gln1980His)

gnomAD frequency: 0.00001  dbSNP: rs1312406661
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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 RCV001964255 SCV002251952 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479617 SCV002785121 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-14 criteria provided, single submitter clinical testing

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