ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6048+17del

dbSNP: rs3833845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001656771 SCV001865554 benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073015 SCV002373706 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495978 SCV002803041 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-19 criteria provided, single submitter clinical testing

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