Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001801208 | SCV002047420 | pathogenic | 16p11.2p12.2 microduplication syndrome | 2021-10-18 | criteria provided, single submitter | clinical testing |