Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000417096 | SCV000494648 | likely pathogenic | Intellectual disability, autosomal dominant 4 | 2015-11-19 | criteria provided, single submitter | clinical testing | Patient with mental retardation and obesity. Prader-Willi syndrome has been excluded. It has been reported that pathogenic variants in KIRREL3 cause autosomic dominant mental retardation (OMIM 607761). |