ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4726-15T>C

gnomAD frequency: 0.00445  dbSNP: rs17144822
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 RCV000223422 SCV000269000 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 4726-15T>C in intron 26 of DNAH11: This variant is not expected to have clinical significance because it has been identified in 6.7% (12/178) of Japanese chromo somes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.n ih.gov/projects/SNP; dbSNP rs17144822).
PreventionGenetics, part of Exact Sciences RCV000223422 SCV000307523 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284425 SCV000468101 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001594876 SCV001829778 benign not provided 2019-01-16 criteria provided, single submitter clinical testing
Invitae RCV000284425 SCV002402954 benign Primary ciliary dyskinesia 2024-02-01 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.