Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Serviço de Genética Médica, |
RCV001807529 | SCV002015211 | likely pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation | 2020-08-21 | criteria provided, single submitter | clinical testing |