Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001172357 | SCV001335409 | pathogenic | Intellectual disability, autosomal dominant 6 | 2017-04-04 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed). |