Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Medical Genetics Ghent, |
RCV001263021 | SCV001439218 | likely pathogenic | Skraban-Deardorff syndrome | 2020-10-10 | criteria provided, single submitter | clinical testing | PM2,PP3,PP2, PS2 (moderate) |