ClinVar Miner

Variants studied for Leber hereditary optic neuropathy

Included ClinVar conditions (7):
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
54 10 10 0 0 2 36 80

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance risk factor not provided total
MT-ND5 11 2 1 0 5 15
MT-ND1 10 3 1 0 9 13
MT-ND6 7 0 0 1 10 12
MT-ATP6 8 3 1 0 2 10
MT-CYB 4 0 3 0 2 8
MT-ND4 3 0 1 0 3 5
MT-CO3 3 0 0 0 1 3
MT-ND2 2 0 1 0 2 3
MT-ND3 1 0 0 0 1 2
DNAJC30, LOC129998603 1 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 1 0 0 0 1
MT-ATP6, MT-CO3 1 0 0 0 0 1
MT-CO1, MT-TS1 1 0 0 0 0 1
MT-ND4L 1 0 0 0 1 1
MT-TL1 0 0 1 0 0 1
NDUFS2 0 1 0 0 0 1
PRICKLE3 0 0 0 1 0 1
RP1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance risk factor not provided total
GeneReviews 0 0 3 0 33 36
OMIM 30 0 1 1 0 32
Mendelics 29 0 1 0 0 30
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 6 3 0 0 0 9
Genomics England Pilot Project, Genomics England 4 5 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 5 5
Fulgent Genetics, Fulgent Genetics 1 0 2 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 1 0 3
MGZ Medical Genetics Center 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1

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