Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000414996 | SCV000492893 | likely pathogenic | Schizophrenia; Global developmental delay; Coarse facial features; Anteverted nares; Synophrys; Intellectual disability | 2015-02-19 | criteria provided, single submitter | clinical testing | |
Institute for Genomic Statistics and Bioinformatics, |
RCV000856744 | SCV000999292 | pathogenic | Kleefstra syndrome 1 | criteria provided, single submitter | clinical testing |