ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5173+10C>T

gnomAD frequency: 0.00407  dbSNP: rs72554026
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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 RCV000513979 SCV000610287 likely benign not provided 2017-04-19 criteria provided, single submitter clinical testing
Invitae RCV001086860 SCV000756489 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476029 SCV002802744 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-09-20 criteria provided, single submitter clinical testing

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