Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics, |
RCV001201175 | SCV001371855 | likely pathogenic | Global developmental delay; Autistic behavior; Seizure; Intellectual disability, moderate | 2020-07-01 | criteria provided, single submitter | clinical testing | |
Equipe Genetique des Anomalies du Developpement, |
RCV003151833 | SCV003840258 | likely pathogenic | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | 2020-03-02 | criteria provided, single submitter | research |