Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001092386 | SCV001248873 | likely pathogenic | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000017430 | SCV000037702 | pathogenic | Glycogen storage disease due to hepatic glycogen synthase deficiency | 1998-08-01 | no assertion criteria provided | literature only |