ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3846-10G>A

gnomAD frequency: 0.00260  dbSNP: rs377030217
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711089 SCV000841416 benign not provided 2018-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078525 SCV001034728 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477641 SCV002800030 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-10-21 criteria provided, single submitter clinical testing

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