Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001501079 | SCV001705883 | likely benign | Pyruvate carboxylase deficiency | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001541841 | SCV001759879 | uncertain significance | not provided | 2019-12-18 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency 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 |