ClinVar Miner

Submissions for variant NM_020442.6(VARS2):c.502C>T (p.Arg168Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288401 SCV002580715 uncertain significance Combined oxidative phosphorylation defect type 20 2022-01-10 criteria provided, single submitter clinical testing
GeneDx RCV003232585 SCV003929947 uncertain significance not provided 2022-12-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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