Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679997 | SCV000807434 | uncertain significance | Intellectual disability, autosomal dominant 8 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 16-year-old male with intellectual disability, absent speech, hypotonia, seizures, ataxia, joint contractures, failure to thrive, nystagmus, cortical blindness, scoliosis, inguinal hernia, urinary retention, GERD |