ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3853G>A (p.Val1285Ile)

gnomAD frequency: 0.00002  dbSNP: rs761199543
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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 RCV000635038 SCV000756416 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-06-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477396 SCV002790173 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-11-30 criteria provided, single submitter clinical testing

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