Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679971 | SCV000807405 | uncertain significance | Syndromic X-linked intellectual disability 94 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in set of identical twins: 12-year-old females with intellectual disability, epilepsy, aggressive behavior |