ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) (rs140901235)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179801 SCV000232109 uncertain significance not provided 2014-12-09 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000144088 SCV000189162 untested Deafness, autosomal recessive 28 no assertion provided not provided Converted during submission to not provided.

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.