Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253572 | SCV001429361 | uncertain significance | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 2019-12-02 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV002221618 | SCV002499162 | uncertain significance | not provided | 2022-03-31 | criteria provided, single submitter | clinical testing | PM2, PP2, PP3 |