Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760386 | SCV000890251 | pathogenic | not provided | 2018-07-12 | criteria provided, single submitter | clinical testing | The Q171X variant in the CHD7 gene has been reported previously in association with CHARGE syndrome (Bartels et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q171X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q171X as a pathogenic variant. |
Baylor Genetics | RCV001329006 | SCV001520292 | pathogenic | CHARGE association | 2023-05-10 | criteria provided, single submitter | clinical testing |