Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000055777 | SCV000485177 | pathogenic | Alkaptonuria | 2015-12-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000055777 | SCV002805875 | pathogenic | Alkaptonuria | 2021-09-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000055777 | SCV000086739 | not provided | Alkaptonuria | no assertion provided | literature only | 1 of 4 founder variants in the Slovak population | |
Department Of Human Genetics, |
RCV000055777 | SCV004098952 | pathogenic | Alkaptonuria | no assertion criteria provided | research | The variant was originally described in AKU patient in PMID:10482952. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00098). |