Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440969 | SCV000536219 | pathogenic | not provided | 2017-01-23 | criteria provided, single submitter | clinical testing | The R564X variant in the CHD8 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 R564X variant was not observed in approximately 6,000 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 R564X as a pathogenic variant. |
Ce |
RCV000440969 | SCV000608692 | likely pathogenic | not provided | 2017-04-01 | criteria provided, single submitter | clinical testing |