Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV003224955 | SCV003920996 | likely pathogenic | Exostoses, multiple, type 1 | 2023-03-13 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PVS1, PM2_SUP |