ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8647G>A (p.Glu2883Lys)

gnomAD frequency: 0.00003  dbSNP: rs752605468
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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 RCV000217601 SCV000270138 likely benign not specified 2016-03-16 criteria provided, single submitter clinical testing p.Glu2883Lys in exon 52 of DNAH11: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, >20 species, including the opposum, tasmanian devil, wallaby and platypu s have a lysine (Lys) at this position. In addition, computational prediction to ols do not suggest a high likelihood of impact to the protein. It has been ident ified in 1/66670 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs752605468).
Invitae RCV003765367 SCV004676831 benign Primary ciliary dyskinesia 2024-01-24 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.