Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Blueprint Genetics | RCV001073811 | SCV001239373 | likely pathogenic | Retinal dystrophy | 2018-04-18 | criteria provided, single submitter | clinical testing | |
| Institute of Human Genetics, |
RCV001073811 | SCV005070556 | pathogenic | Retinal dystrophy | 2017-01-01 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV005012537 | SCV005640269 | likely pathogenic | Retinitis pigmentosa 45 | 2024-05-05 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV005056859 | SCV005708944 | pathogenic | not provided | 2024-03-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr696*) in the CNGB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNGB1 are known to be pathogenic (PMID: 15557452, 24043777). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CNGB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 866074). For these reasons, this variant has been classified as Pathogenic. |