ClinVar Miner

Submissions for variant NC_012920.1:m.7505T>C

dbSNP: rs724159989
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
Mendelics RCV002247419 SCV002517727 pathogenic Cytochrome-c oxidase deficiency disease 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000033857 SCV000057763 pathogenic Mitochondrial non-syndromic sensorineural hearing loss 2010-05-01 no assertion criteria provided literature only
GeneReviews RCV000033857 SCV000914177 not provided Mitochondrial non-syndromic sensorineural hearing loss 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.