Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV000015423 | SCV002785009 | likely pathogenic | MPI-congenital disorder of glycosylation | 2021-10-08 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000015423 | SCV004193275 | likely pathogenic | MPI-congenital disorder of glycosylation | 2024-03-05 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000015423 | SCV000035686 | pathogenic | MPI-congenital disorder of glycosylation | 2002-11-01 | no assertion criteria provided | literature only |