ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.878G>C (p.Gly293Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002306083 SCV002599774 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Revvity Omics, Revvity RCV003138163 SCV003819918 uncertain significance Myoclonic dystonia 11 2019-08-21 criteria provided, single submitter clinical testing

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