ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6416G>A (p.Arg2139Lys)

gnomAD frequency: 0.00483  dbSNP: rs140048925
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
Invitae RCV000233416 SCV000287018 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000249913 SCV000307553 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000249913 SCV000517087 likely benign not specified 2015-05-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514267 SCV000610033 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000249913 SCV000966295 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Arg2139Lys in exon 38 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (46/4016) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs140048925).

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.