Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002307720 | SCV002601432 | uncertain significance | not provided | 2022-05-13 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001280196 | SCV001467356 | uncertain significance | Usher syndrome type 1 | 2020-04-11 | no assertion criteria provided | clinical testing |