ClinVar Miner

Submissions for variant NM_001135022.2(ELMOD3):c.269-13C>T

gnomAD frequency: 0.00009  dbSNP: rs188058240
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
GeneDx RCV001769790 SCV002004706 likely benign not provided 2021-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001769790 SCV002429626 benign not provided 2023-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503247 SCV002807338 likely benign Autosomal recessive nonsyndromic hearing loss 88; Hearing loss, autosomal dominant 81 2021-07-28 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.