ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.39G>A (p.Trp13Ter)

dbSNP: rs1325941288
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004575535 SCV005060183 likely pathogenic Pituitary adenoma 5, multiple types 2024-01-04 criteria provided, single submitter clinical testing
Institute of Rare Diseases, West China Hospital, Sichuan University RCV005052893 SCV005686865 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12 2025-01-09 criteria provided, single submitter research PVS1;PM2_Supporting

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.