Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626778 | SCV000747481 | likely pathogenic | Global developmental delay; Micrognathia; Abnormal facial shape; Microcephaly; Downturned corners of mouth; Speech articulation difficulties; Hyperplasia of midface | 2017-01-01 | criteria provided, single submitter | clinical testing |