Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001261979 | SCV001439338 | likely pathogenic | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 2020-09-22 | no assertion criteria provided | clinical testing |