Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001266823 | SCV001445003 | likely pathogenic | Inborn genetic diseases | 2017-12-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002509645 | SCV002819086 | pathogenic | not provided | 2023-01-06 | criteria provided, single submitter | clinical testing | Identified in an individual from a cohort with autism spectrum disorder, intellectual disability, and/or developmental delay (Stessman et al., 2017); Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 185 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28191889) |