Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Medical Genetics Ghent, |
RCV002269815 | SCV002549919 | likely pathogenic | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 2022-07-25 | criteria provided, single submitter | clinical testing | PM2, PP4_PM, PP3, PM3_PP |