ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5367C>T (p.Ala1789=)

dbSNP: rs868670809
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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 RCV002099022 SCV002434577 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500134 SCV002808104 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-11-29 criteria provided, single submitter clinical testing

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