Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008020 | SCV001167752 | pathogenic | not provided | 2019-03-19 | criteria provided, single submitter | clinical testing | The Q4789X nonsense variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The Q4789X variant in the USH2A gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret Q4789X as a pathogenic variant. |
The Shared Resource Centre "Genome", |
RCV002462254 | SCV002756440 | pathogenic | Usher syndrome type 2A | 2022-11-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002462254 | SCV004183074 | pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |