ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.6676A>G (p.Ile2226Val)

gnomAD frequency: 0.00533  dbSNP: rs112505934
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 RCV000553999 SCV000660282 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114678 SCV003800349 likely benign not provided 2023-10-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003114678 SCV003916822 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing DNAH1: BP4, 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.