Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001705303 | SCV000292707 | uncertain significance | not provided | 2019-11-12 | 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 |
Molecular Genetics Laboratory, |
RCV001174243 | SCV001337372 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |