Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001843872 | SCV002103064 | uncertain significance | Mandibulofacial dysostosis-microcephaly syndrome | 2021-11-23 | criteria provided, single submitter | clinical testing | PM2, PP2. PP3 |