Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre of Medical Genetics, |
RCV000412532 | SCV002025497 | uncertain significance | Meester-Loeys syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PM8 |
Centre of Medical Genetics, |
RCV000256212 | SCV000266569 | pathogenic | Familial thoracic aortic aneurysm and aortic dissection | no assertion criteria provided | research | ||
OMIM | RCV000412532 | SCV000490223 | pathogenic | Meester-Loeys syndrome | 2017-05-10 | no assertion criteria provided | literature only |