Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599545 | SCV000710739 | pathogenic | not provided | 2022-11-28 | criteria provided, single submitter | clinical testing | Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 180 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); Has not been previously published as pathogenic or benign to our knowledge |
Institute of Medical Genetics and Applied Genomics, |
RCV000599545 | SCV001447025 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV002280131 | SCV002568245 | likely pathogenic | NKX2-1-related disorder | 2022-06-27 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Molecular Diagnostics Lab, |
RCV003236822 | SCV003935957 | pathogenic | Brain-lung-thyroid syndrome | 2020-02-28 | criteria provided, single submitter | clinical testing |