Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000997907 | SCV001153671 | uncertain significance | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001195827 | SCV001366247 | uncertain significance | Epilepsy, familial focal, with variable foci 1 | 2019-01-28 | 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. |