Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000119805 | SCV000590956 | uncertain significance | Intellectual disability, autosomal dominant 24 | 2017-09-01 | criteria provided, single submitter | clinical testing | This variant has been previously reported arising de novo in a female patient with severe speech delay, intellectual disability, hypotonia, ataxia, fair hair, epicanthus, and full lips, but there is not sufficient information to categorize it as disease-causing. It was identified once in our laboratory de novo in a 11-year-old female with intellectual disability, dysmorphism, autistic features, epilepsy, hypotonia, ataxia. |
OMIM | RCV000119805 | SCV000154730 | pathogenic | Intellectual disability, autosomal dominant 24 | 2014-05-01 | no assertion criteria provided | literature only |