Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001364830 | SCV001561012 | uncertain significance | not provided | 2021-08-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001364830 | SCV002574323 | uncertain significance | not provided | 2022-03-14 | 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 |