ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.-24-2A>G

dbSNP: rs1569511527
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680010 SCV000807448 uncertain significance Intellectual disability, X-linked syndromic, Turner type 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 1-year-old female with failure to thrive, global delays, hypotonia, possible hearing loss, dysmorphic features, microcphaly, mild ptosis, deviated fingers, small hands and feet, asymetric body size. X inactivation studies showed 100% skewing

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