Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002286098 | SCV002575950 | uncertain significance | not provided | 2022-03-22 | 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 splicing; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV003097700 | SCV003262144 | likely benign | Hyperkalemic periodic paralysis | 2021-12-22 | criteria provided, single submitter | clinical testing |