Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626509 | SCV000747210 | likely pathogenic | Abnormality of the eye; Global developmental delay; Motor delay; Cognitive impairment; Brachycephaly; Delayed speech and language development; Intellectual disability, mild; Generalized hypotonia; Neonatal hypotonia | 2017-01-01 | criteria provided, single submitter | clinical testing |