Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Inherited Metabolic Diseases, |
RCV001194659 | SCV001364396 | likely pathogenic | Alkaptonuria | 2020-03-03 | criteria provided, single submitter | clinical testing | Severe damage of the musculoskeletal system |
Department Of Human Genetics, |
RCV001194659 | SCV004100970 | pathogenic | Alkaptonuria | no assertion criteria provided | research | The variant was originally described in AKU patient in PMID:34504318 and PMID:33621656. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00231). |