ClinVar Miner

Submissions for variant NM_000721.4(CACNA1E):c.2899G>T (p.Gly967Cys)

dbSNP: rs2102553820
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002221790 SCV002498989 uncertain significance not provided 2022-04-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD)

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