ClinVar Miner

Submissions for variant NC_012920.1(MT-TS2):m.8483_13459del

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
Wellcome Centre for Mitochondrial Research, Newcastle University RCV000495046 SCV000577880 pathogenic Mitochondrial disease 2017-05-22 no assertion criteria provided clinical testing
Wellcome Centre for Mitochondrial Research, Newcastle University RCV000495046 SCV000577881 pathogenic Mitochondrial disease 2017-05-22 no assertion criteria provided clinical testing
GeneReviews RCV000855712 SCV000998895 not provided Kearns-Sayre syndrome no assertion provided literature only

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.