Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001261950 | SCV001439301 | likely pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 2020-09-15 | criteria provided, single submitter | clinical testing |