ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5677C>T (p.Arg1893Trp)

gnomAD frequency: 0.00001  dbSNP: rs899082537
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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 RCV000690731 SCV000818431 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-06-10 criteria provided, single submitter clinical testing
GeneDx RCV003327448 SCV004034624 uncertain significance not provided 2023-03-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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