Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680058 | SCV000807498 | uncertain significance | Developmental and epileptic encephalopathy, 9 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory mosaic and de novo in a 14-year-old male with epilepsy (onset at 1y), delays, Asperger syndrome |