Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001764466 | SCV001988952 | uncertain significance | not provided | 2019-09-16 | criteria provided, single submitter | clinical testing | Not observed 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.; This variant is associated with the following publications: (PMID: 26387786) |
Rare Disease Genomics Group, |
RCV000488580 | SCV000576141 | pathogenic | Pulmonary hypertension, primary, 1 | no assertion criteria provided | literature only |