Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000234961 | SCV000292252 | pathogenic | Developmental and epileptic encephalopathy, 11 | 2015-07-02 | no assertion criteria provided | clinical testing | The variant c.1154delT is not reported in 1000 Genomes Database but found to be pathogenic by online software Mutation Taster. |