Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Personalized Diabetes Medicine Program, |
RCV001172512 | SCV001335565 | likely benign | Monogenic diabetes | 2017-07-14 | criteria provided, single submitter | research | ACMG criteria: BP4 (8 predictors), PM2 (absent in database), BP1 (missense in gene where truncating is causative)=likely benign |