Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000857314 | SCV000999916 | likely pathogenic | Intellectual disability, autosomal recessive 43 | 2019-06-03 | criteria provided, single submitter | research | |
OMIM | RCV000857314 | SCV002549895 | pathogenic | Intellectual disability, autosomal recessive 43 | 2022-07-21 | no assertion criteria provided | literature only |