Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535628 | SCV000636466 | likely benign | Progressive myoclonic epilepsy | 2023-06-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591223 | SCV001816243 | uncertain significance | not provided | 2019-03-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Revvity Omics, |
RCV003139761 | SCV003820678 | uncertain significance | Action myoclonus-renal failure syndrome | 2020-03-12 | criteria provided, single submitter | clinical testing |