Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV002246160 | SCV002515873 | likely pathogenic | Developmental and epileptic encephalopathy 94 | 2022-05-20 | criteria provided, single submitter | clinical testing | For the following reasons, we consider the CHD2 mutation found to be likely pathogenic: a comparison with the gnomAD browser did not provide evidence that this sequence change is a norm variant that can also be detected in non-affected individuals. The mutation is not currently listed in ClinVar or the HGMD database; the mutation is independently classified as deleterious by the majority (n=17 of 20) of prediction programs; the mutation arose a.e. de novo. The parents do not carry the mutation; the following ACMG criteria were used for classification: PM2, PM6, PP3 |