ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2395A>G (p.Ile799Val)

gnomAD frequency: 0.00001  dbSNP: rs1216897674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516795 SCV000612577 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481663 SCV002794195 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-05-17 criteria provided, single submitter clinical testing

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