ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4038+15G>T

dbSNP: rs375169106
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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 RCV000514185 SCV000609872 likely benign not provided 2017-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060192 SCV002488470 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506241 SCV002808449 benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-27 criteria provided, single submitter clinical testing

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