Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center For Human Genetics And Laboratory Diagnostics, |
RCV000623905 | SCV000740296 | pathogenic | Syndromic X-linked intellectual disability Claes-Jensen type | 2017-12-20 | criteria provided, single submitter | research | |
Ce |
RCV001091934 | SCV001248224 | pathogenic | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | KDM5C: PVS1, PM2 |