Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001309250 | SCV001498745 | uncertain significance | Familial acute necrotizing encephalopathy | 2021-08-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001773620 | SCV001994248 | uncertain significance | not provided | 2019-07-16 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed 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 |