Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760741 | SCV000890634 | likely pathogenic | not provided | 2018-10-02 | criteria provided, single submitter | clinical testing | The Y866X variant in the IFT140 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. This variant is not observed in large population cohorts (Lek et al., 2016). We interpret Y866X as a likely pathogenic variant. |
Fulgent Genetics, |
RCV002500984 | SCV002787768 | likely pathogenic | Saldino-Mainzer syndrome; Retinitis pigmentosa 80 | 2021-07-23 | criteria provided, single submitter | clinical testing |