ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3544G>A (p.Gly1182Ser)

gnomAD frequency: 0.00008  dbSNP: rs780831084
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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 RCV001242403 SCV001415489 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-07-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484329 SCV002785596 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-03-02 criteria provided, single submitter clinical testing

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