Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538299 | SCV000624103 | pathogenic | Primary ciliary dyskinesia | 2023-12-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg4357*) 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 (rs775720394, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 454655). For these reasons, this variant has been classified as Pathogenic. |
Mendelics | RCV000987856 | SCV001137336 | pathogenic | Primary ciliary dyskinesia 7 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Department of Medical Genetics, |
RCV000987856 | SCV002104228 | pathogenic | Primary ciliary dyskinesia 7 | no assertion criteria provided | clinical testing |