ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3470G>A (p.Arg1157His)

gnomAD frequency: 0.00001  dbSNP: rs772040768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444850 SCV000512468 uncertain significance not provided 2019-09-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001865322 SCV002113462 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-04-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481296 SCV002794153 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-05-19 criteria provided, single submitter clinical testing

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