Total submissions: 1
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 |