Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001801192 | SCV002047404 | pathogenic | Obesity; Failure to thrive; Abnormal foot morphology; Intellectual disability; Impulsivity | 2021-08-13 | criteria provided, single submitter | clinical testing |