Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV001262082 | SCV001439469 | likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 | 2018-01-01 | criteria provided, single submitter | research | PM2+PM1+PP4 |
Invitae | RCV001262082 | SCV001545882 | pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 | 2021-09-01 | criteria provided, single submitter | clinical testing |