Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centogene AG - |
RCV001251124 | SCV001426494 | likely pathogenic | Primary ciliary dyskinesia 7 | criteria provided, single submitter | clinical testing | ||
Revvity Omics, |
RCV001251124 | SCV002021707 | pathogenic | Primary ciliary dyskinesia 7 | 2020-02-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003652115 | SCV004475715 | pathogenic | Primary ciliary dyskinesia | 2024-01-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg2189*) in the DNAH11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). This variant is present in population databases (rs778698443, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 31879361). ClinVar contains an entry for this variant (Variation ID: 974843). For these reasons, this variant has been classified as Pathogenic. |