ClinVar Miner

Submissions for variant NM_031272.5(TEX14):c.1003C>T (p.Arg335Ter)

gnomAD frequency: 0.00112  dbSNP: rs141801212
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000879330 SCV001022352 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Institute of Reproductive Genetics, University of Münster RCV001644857 SCV001860315 pathogenic Non-obstructive azoospermia 2021-08-23 criteria provided, single submitter research
Laan Lab, Human Genetics Research Group, University of Tartu RCV003991582 SCV004239181 pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation 2023-09-01 criteria provided, single submitter research
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003992417 SCV004809405 uncertain significance Spermatogenic failure 23 2024-04-04 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.