ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.12732G>C (p.Glu4244Asp)

dbSNP: rs1556910184
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Total submissions: 1
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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 RCV000498229 SCV000503018 likely pathogenic Intellectual disability, X-linked syndromic, Turner type 2017-01-18 criteria provided, single submitter clinical testing

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