Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036167 | SCV000059819 | uncertain significance | not specified | 2009-11-24 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000668896 | SCV000793570 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-08-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001762114 | SCV001990530 | uncertain significance | not provided | 2019-07-22 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001826550 | SCV002093118 | uncertain significance | Usher syndrome type 1B | 2020-10-04 | no assertion criteria provided | clinical testing |