Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001217775 | SCV001389627 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001751409 | SCV002005050 | uncertain significance | not provided | 2019-02-13 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |