Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760905 | SCV000890801 | pathogenic | not provided | 2018-12-28 | criteria provided, single submitter | clinical testing | The Q142X variant in the ANKRD11 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 Q142X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q142X as a pathogenic variant. |
Kasturba Medical College, |
RCV001805842 | SCV002054018 | pathogenic | KBG syndrome | criteria provided, single submitter | clinical testing |