Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Inherited Metabolic Diseases, |
RCV001194658 | SCV001364395 | likely pathogenic | Alkaptonuria | 2020-03-03 | criteria provided, single submitter | clinical testing | Severe damage of the musculoskeletal system |