Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001221685 | SCV001393745 | uncertain significance | Familial focal epilepsy with variable foci | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001819915 | SCV002064204 | uncertain significance | not provided | 2022-01-20 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |