ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.597A>G (p.Ile199Met)

gnomAD frequency: 0.00001  dbSNP: rs777920643
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758615 SCV001995601 uncertain significance not provided 2019-09-05 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV003136137 SCV003819912 uncertain significance Myoclonic dystonia 11 2021-11-11 criteria provided, single submitter clinical testing

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