ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys)

dbSNP: rs1556913180
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Total submissions: 2
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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 RCV000498802 SCV000503016 likely pathogenic Intellectual disability, X-linked syndromic, Turner type 2017-01-18 criteria provided, single submitter clinical testing
OMIM RCV000498802 SCV000902281 pathogenic Intellectual disability, X-linked syndromic, Turner type 2021-08-20 no assertion criteria provided literature only

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