Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Inherited Metabolic Diseases, |
RCV001290184 | SCV001478274 | pathogenic | PLIN1-related familial partial lipodystrophy | 2020-12-17 | criteria provided, single submitter | clinical testing |