Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000578928 | SCV000680525 | pathogenic | not provided | 2017-11-24 | criteria provided, single submitter | clinical testing | The R116X variant in the FZD6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R116X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R116X as a pathogenic variant. |
Donald Williams Parsons Laboratory, |
RCV000505681 | SCV000599923 | other | Nephroblastoma | 2016-05-01 | no assertion criteria provided | clinical testing |