Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV000504586 | SCV004171234 | likely pathogenic | Intellectual disability, autosomal dominant 47 | 2023-11-30 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000504586 | SCV000598639 | pathogenic | Intellectual disability, autosomal dominant 47 | 2017-08-31 | no assertion criteria provided | literature only | |
Equipe Genetique des Anomalies du Developpement, |
RCV000506734 | SCV000605725 | likely pathogenic | STAG1-related disorder | 2016-12-20 | no assertion criteria provided | clinical testing |