ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1944G>A (p.Pro648=)

gnomAD frequency: 0.00010  dbSNP: rs766161313
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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 RCV001439002 SCV001641883 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-08-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495612 SCV002801893 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-22 criteria provided, single submitter clinical testing

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