Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000824891 | SCV000965807 | pathogenic | Deficiency of alpha-mannosidase | 2015-01-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000824891 | SCV002014153 | pathogenic | Deficiency of alpha-mannosidase | 2021-09-05 | criteria provided, single submitter | clinical testing |