Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598730 | SCV000710671 | uncertain significance | not provided | 2018-02-15 | criteria provided, single submitter | clinical testing | The Q807X variant in the MYH3 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. However, loss-of-function is not a known mechanism of disease for the MYH3 gene. The Q807X variant is observed in 2/111708 (0.002%) alleles from individuals of non-Finnish European background, in large population cohorts (Lek et al., 2016). We interpret Q807X as a variant of uncertain significance. |
Molecular Diagnostics Laboratory, |
RCV001171308 | SCV001334038 | likely pathogenic | Spondylocarpotarsal synostosis syndrome | 2020-01-22 | criteria provided, single submitter | clinical testing |