Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001751795 | SCV001986708 | uncertain significance | not provided | 2020-06-03 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32681751) |
University of Washington Center for Mendelian Genomics, |
RCV001543372 | SCV001761930 | likely pathogenic | Congenital disorder of glycosylation | no assertion criteria provided | research | ||
Yale Center for Mendelian Genomics, |
RCV001849522 | SCV002106983 | likely pathogenic | Seizure; Neurodevelopmental delay; Hypotonia | 2021-03-18 | no assertion criteria provided | literature only |