ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.9561G>A (p.Leu3187=)

dbSNP: rs6965750
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 RCV000155491 SCV000205189 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu3187Leu in exon 58 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 17.7% (695/3924) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs6965750).
PreventionGenetics, part of Exact Sciences RCV000155491 SCV000307606 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387329 SCV000468183 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000387329 SCV001000450 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001706037 SCV001904400 benign not provided 2018-11-10 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.