Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199681 | SCV000250495 | pathogenic | not provided | 2015-07-09 | criteria provided, single submitter | clinical testing | This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The C702X mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant was found in JAG1 |