ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2367C>T (p.Ile789=)

gnomAD frequency: 0.00001  dbSNP: rs761519926
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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 RCV001423786 SCV001626370 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-08-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495575 SCV002794817 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-17 criteria provided, single submitter clinical testing

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