ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.822C>T (p.Phe274=)

gnomAD frequency: 0.00003  dbSNP: rs535504262
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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 RCV002127658 SCV002418888 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500068 SCV002809630 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-11 criteria provided, single submitter clinical testing

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