Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000824901 | SCV000965822 | pathogenic | AICA-ribosiduria | no assertion criteria provided | clinical testing | ||
OMIM | RCV000824901 | SCV001433863 | pathogenic | AICA-ribosiduria | 2020-09-24 | no assertion criteria provided | literature only |