Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000032862 | SCV001335396 | likely 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). |
OMIM | RCV000032862 | SCV000056631 | pathogenic | Intellectual disability, autosomal dominant 6 | 2012-12-21 | no assertion criteria provided | literature only |