Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Research Institute, |
RCV000755004 | SCV000809013 | pathogenic | Insulin resistance | 2017-10-04 | no assertion criteria provided | research | Patient, a 41 year-old woman, was not obese. She underwent OGTT and showed hyperinsulinemia and had severe insulin resistance whereas she was not diabetic. This mutation was heterozygous. |