Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000015421 | SCV004193706 | likely pathogenic | MPI-congenital disorder of glycosylation | 2023-06-09 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000015421 | SCV000035684 | pathogenic | MPI-congenital disorder of glycosylation | 1998-06-01 | no assertion criteria provided | literature only |