Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411862 | SCV000486532 | likely pathogenic | Alkaptonuria | 2016-06-21 | criteria provided, single submitter | clinical testing | |
Department Of Human Genetics, |
RCV000411862 | SCV004101009 | pathogenic | Alkaptonuria | no assertion criteria provided | research | The variant was originally described in AKU patient in PMID:19862842. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00034). |