ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3300C>T (p.Leu1100=)

gnomAD frequency: 0.00009  dbSNP: rs568667163
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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 RCV000543129 SCV000632126 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497090 SCV002811436 benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-10-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392372 SCV004133644 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing CACNA1H: BP4, BP7

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