Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000995810 | SCV001150172 | likely pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 2019-04-11 | criteria provided, single submitter | clinical testing |