Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000210642 | SCV000262984 | likely pathogenic | Inborn genetic diseases | 2013-11-21 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001260884 | SCV001437984 | uncertain significance | Intellectual disability | 2020-09-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001762456 | SCV001988960 | uncertain significance | not provided | 2019-06-04 | 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; This variant is associated with the following publications: (PMID: 25356970) |
Laboratory of Medical Genetics, |
RCV003444021 | SCV004171098 | likely pathogenic | Intellectual disability, autosomal dominant 14 | criteria provided, single submitter | clinical testing |