Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000656398 | SCV000778405 | likely pathogenic | Pelizaeus-Merzbacher disease | 2017-06-22 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001257698 | SCV001434509 | likely pathogenic | Intellectual disability | 2020-04-20 | criteria provided, single submitter | clinical testing |