ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)

gnomAD frequency: 0.00014  dbSNP: rs144879072
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
Invitae RCV001280303 SCV001619155 likely benign Primary ciliary dyskinesia 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001280303 SCV002656868 likely benign Primary ciliary dyskinesia 2016-01-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001280303 SCV001467472 uncertain significance Primary ciliary dyskinesia 2020-10-21 no assertion criteria provided 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.