ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.473C>T (p.Pro158Leu)

dbSNP: rs2149250400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002251617 SCV002521998 uncertain significance not provided 2024-02-28 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 RCV003485772 SCV004235539 uncertain significance Intellectual disability, X-linked syndromic, Turner type 2023-06-23 criteria provided, single submitter clinical testing

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