Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000796038 | SCV000935529 | likely benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2022-07-11 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198372 | SCV001369284 | uncertain significance | Developmental and epileptic encephalopathy, 2 | 2019-12-11 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. This variant was detected in hemizygous state. |