Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000626158 | SCV000746791 | likely pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation | 2017-12-18 | criteria provided, single submitter | clinical testing |