ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2001T>A (p.His667Gln)

gnomAD frequency: 0.00014  dbSNP: rs1180154075
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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 RCV000635018 SCV000756396 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-05-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483795 SCV002793010 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-05-18 criteria provided, single submitter clinical testing

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