Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000825010 | SCV000966203 | likely pathogenic | Neurodegeneration with brain iron accumulation 5 | 2018-10-24 | criteria provided, single submitter | clinical testing |