Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Molecular Biology and Genetics, |
RCV001172282 | SCV001245465 | pathogenic | Leprechaunism syndrome | no assertion criteria provided | clinical testing | Thr211Ile variant - Insulin binding domain |