Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679941 | SCV000807375 | uncertain significance | Developmental and epileptic encephalopathy, 2 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 3-year-old female with global delays, hypotonia, epilepsy, hyperextensibility, failure to thrive. |