ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12288G>A (p.Arg4096=)

gnomAD frequency: 0.03062  dbSNP: rs72658820
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 RCV000221419 SCV000268994 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Arg4096Arg in exon 75 of DNAH11: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 9.3% (346/3726) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs72658820).
PreventionGenetics, part of Exact Sciences RCV000221419 SCV000307444 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261241 SCV000468218 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000261241 SCV000561996 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706223 SCV001842224 benign not provided 2021-05-05 criteria provided, single submitter clinical testing

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.