Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Human Genetics | RCV000014597 | SCV001482510 | pathogenic | Glycogen storage disease IXc | 2020-08-27 | criteria provided, single submitter | clinical testing | disease causing |
OMIM | RCV000014597 | SCV000034851 | pathogenic | Glycogen storage disease IXc | 1996-11-01 | no assertion criteria provided | literature only |