ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7552G>A (p.Val2518Ile)

gnomAD frequency: 0.02641  dbSNP: rs68023059
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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 RCV000150439 SCV000197625 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val2518Ile in exon 46 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 4.2% (344/8268) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs68023059).
PreventionGenetics, part of Exact Sciences RCV000150439 SCV000307572 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000458980 SCV000561984 benign Primary ciliary dyskinesia 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001651009 SCV001865491 benign not provided 2020-09-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24450482)

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.