ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4038+12C>T

gnomAD frequency: 0.00414  dbSNP: rs370831984
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514033 SCV000609546 likely benign not provided 2017-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060181 SCV002453361 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496977 SCV002807386 benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-27 criteria provided, single submitter clinical testing

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