ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val)

gnomAD frequency: 0.00150  dbSNP: rs201323940
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155487 SCV000205184 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu2324Val in exon 42 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 0.6% (22/3790) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS).
Invitae RCV000629560 SCV000750508 likely benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227078 SCV002506112 likely benign Primary ciliary dyskinesia 7 2023-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000629560 SCV002663947 benign Primary ciliary dyskinesia 2017-04-17 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV003952785 SCV004775370 likely benign DNAH11-related condition 2020-07-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.