ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3650G>A (p.Arg1217His)

gnomAD frequency: 0.00011  dbSNP: rs374847612
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635067 SCV000756445 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492971 SCV002803988 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-14 criteria provided, single submitter clinical testing

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