Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000328403 | SCV000329074 | pathogenic | not provided | 2016-10-14 | criteria provided, single submitter | clinical testing | The Q74X nonsense variant in the AR gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 5,800 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although Q74X has not been reported previously to our knowledge, we consider it to be pathogenic. |
Clinical Molecular Genetics Laboratory, |
RCV000583276 | SCV000692139 | pathogenic | Androgen resistance syndrome | 2012-12-26 | no assertion criteria provided | clinical testing |