Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000755691 | SCV000883114 | likely pathogenic | Intellectual disability, X-linked, with or without seizures, arx-related | 2018-11-21 | criteria provided, single submitter | clinical testing | |
Equipe Genetique des Anomalies du Developpement, |
RCV001526546 | SCV001736971 | pathogenic | Ventriculomegaly | criteria provided, single submitter | research |