Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000443903 | SCV000534705 | pathogenic | not provided | 2019-08-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016) |
Ce |
RCV000443903 | SCV001148125 | likely pathogenic | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing |