Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486623 | SCV000572385 | likely pathogenic | not provided | 2021-10-20 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ocular Genomics Institute, |
RCV001376364 | SCV001573481 | uncertain significance | Retinitis pigmentosa 25 | 2021-04-08 | criteria provided, single submitter | research | The EYS c.1274G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3. Based on this evidence we have classified this variant as Variant of Uncertain Significance. |
Natera, |
RCV001376364 | SCV002076675 | uncertain significance | Retinitis pigmentosa 25 | 2020-02-06 | no assertion criteria provided | clinical testing |