Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000791333 | SCV000902452 | pathogenic | X-linked intellectual disability, van Esch type | 2019-02-01 | no assertion criteria provided | research | We performed segregation analysis, X-inactivation studies, Western blot and functional studies that support a clear pathogenic effect. |
OMIM | RCV000791333 | SCV000930635 | pathogenic | X-linked intellectual disability, van Esch type | 2019-08-05 | no assertion criteria provided | literature only |