Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Inherited Metabolic Diseases, |
RCV001837074 | SCV002097397 | likely pathogenic | PPARG-related familial partial lipodystrophy | 2021-01-15 | criteria provided, single submitter | clinical testing |