ClinVar Miner

Submissions for variant NM_012247.5(SEPHS1):c.1111C>T (p.Arg371Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003442917 SCV002103293 pathogenic not provided 2022-02-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Undiagnosed Diseases Network, NIH RCV003992564 SCV004812030 uncertain significance SEPHS1-related disorder 2022-12-09 no assertion criteria provided clinical testing

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