Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000496312 | SCV000586704 | pathogenic | Wiedemann-Steiner syndrome | 2017-08-01 | criteria provided, single submitter | clinical testing | De novo splice donor variant in a patient with moderate ID and hypertelorism. |