Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001308777 | SCV001498247 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 | 2021-09-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004721543 | SCV005327947 | pathogenic | not provided | 2023-06-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35599849) |
Molecular Genetics Laboratory, |
RCV000677391 | SCV000803685 | likely pathogenic | Developmental and epileptic encephalopathy, 43 | 2017-08-31 | no assertion criteria provided | clinical testing |