Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001261986 | SCV001439346 | likely pathogenic | Congenital disorder of glycosylation with defective fucosylation 1 | 2020-09-23 | no assertion criteria provided | clinical testing |