Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000850369 | SCV000992553 | pathogenic | Wieacker-Wolff syndrome | 2019-04-04 | criteria provided, single submitter | research | ACMG codes: PVS1, PM2, PP4 |
Gene |
RCV001008687 | SCV001168466 | pathogenic | not provided | 2019-02-25 | criteria provided, single submitter | clinical testing | The Q138X variant in the ZC4H2 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 Q138X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q138X as a pathogenic variant. |