Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001581574 | SCV001813301 | likely pathogenic | not provided | 2019-08-22 | criteria provided, single submitter | clinical testing | Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 177 amino acids are lost and replaced with 7 incorrect amino acids; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002501938 | SCV002813498 | likely pathogenic | Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 | 2022-04-05 | criteria provided, single submitter | clinical testing |