ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3507C>T (p.Gly1169=)

gnomAD frequency: 0.00007  dbSNP: rs200522574
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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 RCV001216230 SCV001388017 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497737 SCV002778121 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-04 criteria provided, single submitter clinical testing

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