Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192869 | SCV000249491 | pathogenic | Mowat-Wilson syndrome | 2014-07-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000406872 | SCV000330699 | pathogenic | not provided | 2016-07-29 | criteria provided, single submitter | clinical testing | The S225X pathogenic variant in the ZEB2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S225X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret S225X as a pathogenic variant. |
Genome- |
RCV000192869 | SCV002045654 | pathogenic | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing |