ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2604-5C>T

gnomAD frequency: 0.00017  dbSNP: rs191783113
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711079 SCV000841406 benign not provided 2018-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522585 SCV001732160 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499283 SCV002809290 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711079 SCV004699763 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CACNA1H: BP4

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