Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001034617 | SCV001167345 | likely pathogenic | Aneurysm-osteoarthritis syndrome | no assertion criteria provided | clinical testing | ACMG criteria PVS1 and PM2 |