ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2179G>A (p.Val727Ile)

dbSNP: rs781150755
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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 RCV001319480 SCV001510224 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-08-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493672 SCV002780380 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-02-24 criteria provided, single submitter clinical testing

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