Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599418 | SCV000710696 | pathogenic | not provided | 2018-02-27 | criteria provided, single submitter | clinical testing | The Q4905X variant in the KMT2D 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 Q4905X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q4905X as a pathogenic variant, |
Center for Human Genetics, |
RCV000659817 | SCV000781676 | likely pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing |