Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000150430 | SCV000197611 | likely benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Pro722Pro in exon 12 of DNAH11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (14/8142) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs191266255). |
| Eurofins Ntd Llc |
RCV000724631 | SCV000225575 | uncertain significance | not provided | 2018-06-15 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000231791 | SCV000286989 | likely benign | Primary ciliary dyskinesia | 2024-01-28 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000231791 | SCV000468064 | uncertain significance | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000231791 | SCV002731333 | likely benign | Primary ciliary dyskinesia | 2022-03-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |