ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) (rs1226171550)

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
OMIM RCV000681544 SCV000045075 pathogenic Deafness, autosomal recessive 42 2011-02-11 no assertion criteria provided literature only
National Institute on Deafness and Communication Disorders,National Institutes of Health RCV000681544 SCV000807736 pathogenic Deafness, autosomal recessive 42 2018-07-05 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291341 SCV001479815 likely pathogenic Deafness, autosomal recessive no assertion criteria provided research

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.