ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.919G>A (p.Gly307Ser)

gnomAD frequency: 0.00004  dbSNP: rs766354453
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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 RCV001359742 SCV001555623 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486501 SCV002789288 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-12 criteria provided, single submitter clinical testing

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