ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val)

dbSNP: rs1556912828
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital RCV000497693 SCV000503017 likely pathogenic Intellectual disability, X-linked syndromic, Turner type 2017-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200498 SCV001371476 likely pathogenic not provided 2020-09-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001260731 SCV001437823 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing

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