Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV004549026 | SCV005043284 | likely pathogenic | Loeys-Dietz syndrome 2 | 2024-03-13 | criteria provided, single submitter | clinical testing |