ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp)

dbSNP: rs121918525
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000011422 SCV001149805 pathogenic Intellectual disability, X-linked syndromic, Turner type 2020-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000999458 SCV001156071 pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing HUWE1: PS2, PM2, PS4:Moderate, PP2, PP3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000999458 SCV001334346 likely pathogenic not provided 2020-02-10 criteria provided, single submitter clinical testing
OMIM RCV000011422 SCV000031654 pathogenic Intellectual disability, X-linked syndromic, Turner type 2008-02-01 no assertion criteria provided literature only

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