ClinVar Miner

Submissions for variant NC_012920.1(MT-ND4):m.12007G>A

dbSNP: rs2853497
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics Division, Defence Institute of Physiology and Allied Sciences RCV003887815 SCV004698207 benign Venous thromboembolism no assertion criteria provided case-control Three age and sex matched study groups were taken and whole exome sequencing was performed. 1. Healthy Subjects (n=19) 2. Sea Level Venous Thromboembolism (n=15) 3. High Altitude Venous Thromboembolism (n=6) This variant is benign in nature. After analysis we found frequency of rs2853497 in only high altitude induced Thromboembolism study groups. However, this SNP was absent in Healthy Subjects and sea level Thromboembolism study groups. First time it is being reported that there is association of rs2853497with Venous Thromboembolism.

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.