Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000023149 | SCV000800680 | uncertain significance | Congenital disorder of glycosylation, type Ia | 2018-03-24 | criteria provided, single submitter | clinical testing | |
Centre for Inherited Metabolic Diseases, |
RCV000023149 | SCV001435293 | likely pathogenic | Congenital disorder of glycosylation, type Ia | 2020-04-02 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000023149 | SCV000044440 | pathogenic | Congenital disorder of glycosylation, type Ia | 2011-09-21 | no assertion criteria provided | literature only |