ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5324-4G>A

gnomAD frequency: 0.00558  dbSNP: rs57687113
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635147 SCV000756525 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499063 SCV002805111 benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-08-04 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573299 SCV001798954 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573299 SCV001932598 likely benign not provided no assertion criteria provided clinical testing

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