Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253208 | SCV001428811 | likely pathogenic | X-linked intellectual disability Cabezas type | 2019-03-27 | criteria provided, single submitter | clinical testing | This variant was identified as hemizygous |