ClinVar Miner

Variants in gene MT-CYB

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 risk factor not provided total
14 55 129 47 96 1 3 313

Condition and significance breakdown #

Total conditions: 24
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Leigh syndrome 1 0 121 36 94 0 0 252
Familial cancer of breast 0 32 0 0 0 0 0 32
not provided 0 0 4 11 3 0 3 21
Neoplasm of ovary 0 19 0 0 0 0 0 19
Exercise intolerance 4 0 0 0 0 0 0 4
Mitochondrial myopathy, infantile, transient 2 2 0 0 0 0 0 4
Leber hereditary optic neuropathy 3 0 1 0 0 0 0 3
Familial colorectal cancer 2 0 0 0 0 0 0 2
Epilepsy; Bilateral lesions of basal ganglia 0 1 0 0 0 0 0 1
Exercise intolerance, cardiomyopathy, and septooptic dysplasia 1 0 0 0 0 0 0 1
Hearing impairment; Macrocephalus; Developmental delay 0 1 0 0 0 0 0 1
Histiocytoid cardiomyopathy 1 0 0 0 0 0 0 1
Ischemic stroke, susceptibility to; Focal white matter lesions 0 0 1 0 0 0 0 1
Leber hereditary optic neuropathy; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 0 1 0 0 0 0 1
Mitochondrial cytopathy 0 0 1 0 0 0 0 1
Mitochondrial encephalomyopathy 1 0 0 0 0 0 0 1
Mitochondrial myopathy 0 0 1 0 0 0 0 1
Multisystem disorder 1 0 0 0 0 0 0 1
Obesity 0 0 0 0 0 1 0 1
Parkinsonism-plus 0 0 1 0 0 0 0 1
Parkinsonism/MELAS overlap syndrome 1 0 0 0 0 0 0 1
Sensorineural hearing loss; Reduced visual acuity; Ataxia; Atrophy of the brain and cerebellum 0 0 1 0 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 20 0 0 1 0 0 0 0 1
not specified 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 3 2 121 36 94 0 0 256
Department of Zoology Govt. MVM College 0 51 0 0 0 0 0 51
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 11 3 0 0 16
OMIM 13 0 0 0 0 1 0 14
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 2 4 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 0 0 0 2
GeneReviews 1 0 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 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.