Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543447 | SCV000651806 | likely benign | Pitt-Hopkins-like syndrome 2 | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001755882 | SCV002007478 | uncertain significance | not provided | 2019-10-15 | 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 splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |