Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Research Institute, |
RCV000496343 | SCV000503036 | pathogenic | Rabson-Mendenhall syndrome | 2014-06-02 | no assertion criteria provided | research | Patient, a 5 year-old girl, showed acanthosis nigricans, hypertrichosis, and dental dysplasia. She showed hyperinsulinemia and had extreme insulin resistance. This mutaion was confirmed compound heterozygosity. |