ClinVar Miner

Variants in gene combination MT-RNR1, MT-TS1

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
1 1 0 0 0 1 1 1

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic drug response not provided total
Aminoglycoside Ototoxicity 0 1 0 0 1
Aminoglycoside-induced deafness 1 0 1 0 1
Gentamicin response 0 0 1 0 1
Mitochondrial disease 0 1 0 0 1
Mitochondrial non-syndromic sensorineural hearing loss 1 0 0 1 1
Rare genetic deafness 0 1 0 0 1
aminoglycoside antibacterials response - Toxicity 0 0 1 0 1
gentamicin response - Toxicity 0 0 1 0 1
kanamycin response - Toxicity 0 0 1 0 1
streptomycin response - Toxicity 0 0 1 0 1
tobramycin response - Toxicity 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 8
Download table as spreadsheet
Submitter pathogenic likely pathogenic drug response not provided total
OMIM 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 1
GeneReviews 0 0 0 1 1
PharmGKB 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 1
Medical Genetics Summaries 0 0 1 0 1
New York Genome Center 0 1 0 0 1
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 0 1 0 0 1

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.