Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neurology Department, |
RCV000855545 | SCV000924627 | pathogenic | DPM3-congenital disorder of glycosylation | 2019-06-23 | no assertion criteria provided | clinical testing | |
OMIM | RCV001254823 | SCV001430930 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 | 2020-08-25 | no assertion criteria provided | literature only |