Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV002465470 | SCV002760165 | likely pathogenic | Intellectual disability, X-linked, syndromic, Houge type | 2022-11-29 | criteria provided, single submitter | research | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV002465470 | SCV003932266 | pathogenic | Intellectual disability, X-linked, syndromic, Houge type | 2023-01-03 | criteria provided, single submitter | clinical testing | PVS1, PM2, PM6, PS4_supporting |