Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cavalleri Lab, |
RCV001031016 | SCV001160814 | uncertain significance | X-linked intellectual disability-cerebellar hypoplasia syndrome | 2019-12-11 | criteria provided, single submitter | research | ACMG evidence PM2, PM3, PP3 |