Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521113 | SCV000618590 | uncertain significance | not provided | 2017-06-23 | criteria provided, single submitter | clinical testing | The R2189Q variant in the DNAH11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R2189Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R2189Q as a variant of uncertain significance. |
Invitae | RCV002525150 | SCV003507889 | benign | Primary ciliary dyskinesia | 2023-12-03 | criteria provided, single submitter | clinical testing |