Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000677649 | SCV000803780 | likely pathogenic | ALDH18A1-related de Barsy syndrome | 2016-09-14 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000677649 | SCV003841148 | pathogenic | ALDH18A1-related de Barsy syndrome | 2023-03-13 | no assertion criteria provided | literature only |