Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV002468868 | SCV002765061 | pathogenic | Developmental and epileptic encephalopathy, 5 | 2022-11-22 | criteria provided, single submitter | clinical testing | Historical Nomenclature: c.6923_6928dup, p.(Arg2308_Met2309dup), which is outdated because of the latest HGVS recommendation to shift ambiguous duplications to the 3' end. HGMD: CI103336, ClinVar: 207370. This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_VSTR, PS4_MOD, PM4, PM2_SUP |