ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2380G>A (p.Glu794Lys)

gnomAD frequency: 0.00401  dbSNP: rs78653098
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
PreventionGenetics, part of Exact Sciences RCV000248365 SCV000307481 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341951 SCV000468068 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000341951 SCV000561934 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437039 SCV004163779 benign not provided 2022-07-01 criteria provided, single submitter clinical testing DNAH11: BP4, BS1, BS2

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.