Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594184 | SCV000706186 | uncertain significance | not provided | 2017-02-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000594184 | SCV001824367 | uncertain significance | not provided | 2019-06-18 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic [(Stenson et al., 2014; other references)]; 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 |
Revvity Omics, |
RCV000594184 | SCV003816976 | uncertain significance | not provided | 2019-12-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001834895 | SCV002075652 | uncertain significance | GNE myopathy | 2020-07-28 | no assertion criteria provided | clinical testing |