ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12796T>A (p.Phe4266Ile)

gnomAD frequency: 0.00011  dbSNP: rs186358036
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001255256 SCV001431615 uncertain significance Primary ciliary dyskinesia 2020-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166581 SCV003884438 uncertain significance Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing The c.12796T>A (p.F4266I) alteration is located in exon 78 (coding exon 78) of the DNAH11 gene. This alteration results from a T to A substitution at nucleotide position 12796, causing the phenylalanine (F) at amino acid position 4266 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV001255256 SCV004675837 benign Primary ciliary dyskinesia 2024-01-11 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.