Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415054 | SCV000492928 | likely pathogenic | Global developmental delay; Expressive language delay; Seizure; Abnormal facial shape; Absent speech; Microcephaly; Ventriculomegaly | 2014-09-16 | criteria provided, single submitter | clinical testing |