Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV004784887 | SCV005397103 | pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 2024-10-29 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1,PM2 |