Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679952 | SCV000807386 | pathogenic | Epilepsy, idiopathic generalized, susceptibility to, 7 | 2017-09-01 | flagged submission | clinical testing | This splice mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory inherited in a 6-year-old female with epilepsy, myoclonus, dysphagia, developmental delay, ataxia, behavioral problems, and sleep disturbances. However, an additional de novo mutation in a separate gene was also present. |