Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV000708579 | SCV000837703 | pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Clinical Genetics and Genomics, |
RCV001269613 | SCV001449718 | pathogenic | not provided | 2019-03-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001269613 | SCV002762316 | pathogenic | not provided | 2022-12-05 | criteria provided, single submitter | clinical testing | Previously reported as p.Arg468* (Frisk et al., 2022); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35118825, 33726816) |
Diagnostic Laboratory, |
RCV001269613 | SCV002034898 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001269613 | SCV002035264 | pathogenic | not provided | no assertion criteria provided | clinical testing |