ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.725G>A (p.Arg242His)

gnomAD frequency: 0.00021  dbSNP: rs142863013
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 RCV000232124 SCV000286345 likely benign Primary ciliary dyskinesia 2023-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478849 SCV002801122 likely benign Spermatogenic failure 46 2022-01-12 criteria provided, single submitter clinical testing
GeneDx RCV003151760 SCV003840345 uncertain significance not provided 2023-04-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.