Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Personalized Diabetes Medicine Program, |
RCV000445369 | SCV000537039 | benign | Monogenic diabetes | 2018-12-07 | criteria provided, single submitter | research | ACMG criteria: BP4 (REVEL 0.122 + BP4/6 predictors, not using PP3/2 predictors), BS2 (65 cases and 59 controls in T2DM), BS1 (overall MAF in gnomAD is 0.5%): benign |
Invitae | RCV000965437 | SCV001112705 | benign | not provided | 2017-06-07 | criteria provided, single submitter | clinical testing |