Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Personalized Diabetes Medicine Program, |
RCV001174371 | SCV001337509 | uncertain significance | Monogenic diabetes | 2018-08-24 | criteria provided, single submitter | research | ACMG criteria: (PP3:5 predictors, BP4:4 predictors and REVEL=0.393, conflicting evidence, not using both), PM2=VUS. Note: K487E was reported in PMID: 2834824 in trans with nonsense mutation in patient with extreme insulin resistance. |