Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000457560 | SCV000553239 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-11-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003329286 | SCV000567160 | uncertain significance | not provided | 2023-09-20 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |