Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Research Institute, |
RCV000496805 | SCV000503035 | pathogenic | Rabson-Mendenhall syndrome | 2014-06-02 | no assertion criteria provided | research | Patient, a 13 year-old girl, showed hirsutism, acanthosis nigricans and dental abnormality including malalignment. She showed hyperinsulinemia and had severe insulin resistance. This mutaion was confirmed compound heterozygosity. |