Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500744 | SCV000596969 | uncertain significance | not specified | 2016-06-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001372784 | SCV001569469 | likely benign | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2023-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001557536 | SCV001779310 | likely benign | not provided | 2019-10-22 | criteria provided, single submitter | clinical testing | The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Predicted to be in the cytoplasmic loop between the first and second homologous domains; Has not been previously published as pathogenic or benign to our knowledge |
Ce |
RCV001557536 | SCV004147128 | uncertain significance | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | SCN2A: PP2 |