Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001007975 | SCV001167705 | pathogenic | not provided | 2019-03-14 | criteria provided, single submitter | clinical testing | The Y60X variant in the RHO gene has been reported previously in association with autosomal dominant retinitis pigmentosa (Eisenberger et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y60X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Y60X as a pathogenic variant. |
Centre for Genomic Medicine, |
RCV001265175 | SCV001443203 | likely pathogenic | Retinitis pigmentosa 4 | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132596 | SCV000172543 | probable-pathogenic | Retinitis pigmentosa | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |