Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000706060 | SCV000835090 | pathogenic | Primary ciliary dyskinesia | 2023-03-08 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 582081). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile3764Alafs*32) 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). |
Genome |
RCV003483714 | SCV004228607 | not provided | Primary ciliary dyskinesia 7 | no assertion provided | phenotyping only | Variant interpreted as Pathogenic and reported on 06-18-2018 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |