Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001196135 | SCV001366639 | uncertain significance | Developmental and epileptic encephalopathy, 66 | 2019-04-25 | 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. The following ACMG criteria were applied in classifying this variant: PM2,PP3. |
3billion | RCV001196135 | SCV005328567 | likely benign | Developmental and epileptic encephalopathy, 66 | 2024-09-20 | criteria provided, single submitter | clinical testing | The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question. |