Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001456310 | SCV001660088 | likely benign | Spastic paraplegia | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001813824 | SCV002061105 | uncertain significance | not provided | 2022-01-05 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |