Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV001730017 | SCV001976760 | pathogenic | Loeys-Dietz syndrome 2 | 2021-08-10 | criteria provided, single submitter | clinical testing | PM1, PM2, PM5, PP2, PP3, PP5 |