ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3659A>C (p.Gln1220Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005017561 SCV005645414 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-03-07 criteria provided, single submitter clinical testing

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