Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674652 | SCV000800027 | uncertain significance | Alstrom syndrome | 2018-05-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001766449 | SCV001989669 | uncertain significance | not provided | 2019-07-18 | 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 |