ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.299+15C>G

dbSNP: rs553478910
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002183588 SCV002480245 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505848 SCV002813179 benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706421 SCV005216846 likely benign not provided criteria provided, single submitter not provided

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