Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144821 | SCV000191056 | uncertain significance | not provided | 2022-02-11 | 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 |
Athena Diagnostics Inc | RCV000144821 | SCV001146580 | uncertain significance | not provided | 2018-12-27 | criteria provided, single submitter | clinical testing |