Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000925963 | SCV001071518 | likely benign | Fanconi anemia | 2022-05-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003332271 | SCV004039935 | uncertain significance | not provided | 2023-04-02 | 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 |