Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000008160 | SCV004204834 | pathogenic | PMM2-congenital disorder of glycosylation | 2023-10-23 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000008160 | SCV000028365 | pathogenic | PMM2-congenital disorder of glycosylation | 2000-08-01 | no assertion criteria provided | literature only | |
Gene |
RCV000008160 | SCV000256530 | not provided | PMM2-congenital disorder of glycosylation | no assertion provided | literature only |