ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.8944C>T (p.Arg2982Trp)

gnomAD frequency: 0.00001  dbSNP: rs373845421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002226596 SCV002505584 uncertain significance Intellectual disability, X-linked syndromic, Turner type 2022-04-05 criteria provided, single submitter clinical testing This variant was identified as hemizygous._x000D_ Criteria applied: PM1, PM2_SUP, PP3
Genetics and Molecular Pathology, SA Pathology RCV002226596 SCV002761709 uncertain significance Intellectual disability, X-linked syndromic, Turner type 2022-06-19 criteria provided, single submitter clinical testing
GeneDx RCV003151883 SCV003840523 uncertain significance not provided 2022-09-13 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

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