Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000991194 | SCV001134971 | uncertain significance | not provided | 2019-03-18 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016). Has not been previously published as pathogenic or benign to our knowledge. In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |