ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3846-16G>A

gnomAD frequency: 0.00033  dbSNP: rs764918796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002175341 SCV002344750 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-08-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507884 SCV002799053 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-02 criteria provided, single submitter clinical testing

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