Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV004698751 | SCV005187246 | likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 | 2024-08-12 | criteria provided, single submitter | clinical testing | PVS1, PM2_sup |