Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000627044 | SCV000747749 | pathogenic | Syndromic X-linked mental retardation, Cabezas type | 2017-06-19 | criteria provided, single submitter | clinical testing | This hemizygous variant in the CUL4B gene was identified in a young patient with developmental disorder. |