ClinVar Miner

Variants studied for Leber optic atrophy

Coded as:
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
50 10 12 0 0 2 33 77

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance risk factor not provided total
MT-ND5 11 2 2 0 4 15
MT-ND1 9 2 1 0 9 12
MT-ND6 5 0 1 1 9 12
MT-ATP6 8 3 2 0 1 10
MT-CYB 4 0 2 0 1 6
MT-ND4 2 0 1 0 3 5
MT-CO3 3 0 0 0 1 3
MT-ND2 2 0 1 0 2 3
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-ATP8, MT-CO1, MT-CO2, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TF, MT-TI, MT-TK, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TS1, MT-TV, 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-ND3 0 0 0 0 1 1
MT-ND4L 1 0 0 0 1 1
MT-ND5, MT-ND6 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
Mendelics 29 0 1 0 0 30
OMIM 26 0 1 1 0 28
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 1 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 3 0 0 3
Fulgent Genetics, Fulgent Genetics 1 0 1 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
GenomeConnect, ClinGen 0 0 0 0 2 2
MGZ Medical Genetics Center 1 0 0 0 0 1
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
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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