Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001267763 | SCV001660265 | likely benign | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2023-12-21 | criteria provided, single submitter | clinical testing | |
UOSD Laboratory of Genetics & Genomics of Rare Diseases, |
RCV001267763 | SCV001424079 | likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2020-05-21 | no assertion criteria provided | clinical testing |