Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000496164 | SCV000586720 | pathogenic | Baraitser-Winter syndrome 1 | 2017-08-01 | criteria provided, single submitter | clinical testing | The de novo missense variant c.351G>T, p.(Glu117Asp) in ACTB was identified in a girl with severe ID, congenital heart defect, cleft lip and palate and epilepsy. At the same position, another missense variant p.(Glu117Lys) was previously reported in a patient with atypical Baraitser-Winter syndrome. |