Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001582289 | SCV001821118 | uncertain significance | not provided | 2019-12-05 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016) |
All of Us Research Program, |
RCV004008951 | SCV004833837 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2023-05-08 | criteria provided, single submitter | clinical testing |