Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000790624 | SCV000928329 | likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 | 2019-04-30 | criteria provided, single submitter | clinical testing | frameshift mutation in a gene without tolerance for loss of function mutations |