Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680016 | SCV000807455 | uncertain significance | Generalized epilepsy-paroxysmal dyskinesia syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 15-year-old female with intellectual disability, hypotonia, progressive ataxia, epilepsy, vermis and cerebellar vermis atrophy, ADHD, scoliosis |