Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000627113 | SCV000747917 | likely pathogenic | Severe global developmental delay | 2017-03-16 | criteria provided, single submitter | clinical testing | |
Equipe Genetique des Anomalies du Developpement, |
RCV000761566 | SCV000891709 | likely pathogenic | EEG abnormality; Gait disturbance; Abnormal facial shape; Absent speech; Inflexible adherence to routines; Generalized hypotonia; Cortical dysplasia; Severe global developmental delay; Hypoplastic anterior commissure; Hypoplastic hippocampus | 2017-12-01 | criteria provided, single submitter | clinical testing |