ClinVar Miner

Variants studied for hereditary optic atrophy

Included ClinVar conditions (34):
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
167 89 397 190 207 2 54 1044

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
OPA3 8 8 229 133 79 0 4 456
OPA1 53 39 77 15 40 0 11 219
ATP1A3 10 12 12 11 50 0 0 91
LOC130064709, OPA3 2 2 16 20 3 0 1 42
ACO2 2 2 8 3 7 0 1 22
AFG3L2 6 2 7 0 4 0 1 20
RTN4IP1 7 1 9 0 2 0 0 19
TMEM126A 1 0 8 6 3 0 0 17
MT-ND5 11 2 2 0 0 0 5 16
DNM1L 5 2 2 2 4 0 0 15
MT-ND6 6 0 1 0 1 1 9 13
MT-ND1 9 2 1 0 0 0 9 12
MT-ATP6 8 3 2 0 0 0 2 11
ACO2, POLR3H 3 3 4 0 0 0 0 10
MT-CYB 4 0 3 0 2 0 2 10
YME1L1 1 0 2 0 6 0 0 9
LOC126806913, OPA1 4 1 2 0 1 0 0 8
MT-ND4 3 0 1 0 0 0 3 5
ATP1A3, LOC130064543 0 0 3 0 1 0 0 4
MECR 2 1 1 0 0 0 0 4
SSBP1 4 1 0 0 0 0 0 4
AFG3L2, TUBB6 0 0 2 0 1 0 0 3
LOC130006551, TMEM126A 0 0 2 0 1 0 0 3
MCAT 3 0 0 0 0 0 0 3
MT-CO3 3 0 0 0 0 0 1 3
MT-ND2 2 0 1 0 0 0 2 3
DNM1L, YARS2 0 0 0 0 2 0 0 2
MIEF1 2 0 0 0 0 0 0 2
MT-ND3 1 0 0 0 0 0 1 2
ACO2, LOC130067544 0 1 0 0 0 0 0 1
ATP13A3, CPN2, FAM43A, GP5, HES1, LRRC15, LSG1, OPA1, TMEM44 0 1 0 0 0 0 0 1
CRYBG1, LOC123775393, LOC129389600, LOC129996910, LOC129996911, QRSL1, RTN4IP1 0 1 0 0 0 0 0 1
DNAJC30, LOC129998603 1 0 0 0 0 0 0 1
LOC126863256, WDR45 0 1 0 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 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 0 0 1
MT-ATP6, MT-CO3 1 0 0 0 0 0 0 1
MT-CO1, MT-TS1 1 0 0 0 0 0 0 1
MT-ND4L 1 0 0 0 0 0 1 1
MT-ND5, MT-ND6 1 0 0 0 0 0 1 1
MT-TL1 0 0 1 0 0 0 0 1
NDUFS2 0 1 0 0 0 0 0 1
PRICKLE3 0 0 0 0 0 1 0 1
RP1 0 0 1 0 0 0 0 1
WDR45 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 81
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Laboratory Services, Illumina 0 0 175 21 122 0 0 318
Labcorp Genetics (formerly Invitae), Labcorp 9 4 129 152 5 0 0 299
Genome-Nilou Lab 0 0 0 0 85 0 0 85
OMIM 78 0 1 0 0 1 0 80
Fulgent Genetics, Fulgent Genetics 9 9 23 16 2 0 0 59
GeneReviews 0 0 3 0 0 0 45 48
Mendelics 33 4 3 0 5 0 0 45
MGZ Medical Genetics Center 7 5 7 0 0 0 0 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 3 5 0 0 0 0 18
Baylor Genetics 4 4 7 0 0 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 10 2 3 0 0 0 0 15
Genomics England Pilot Project, Genomics England 6 8 0 0 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 0 11 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 3 0 0 0 0 0 11
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 6 3 0 0 0 0 0 9
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 3 6 0 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 6 0 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 3 0 0 0 0 8
Institute of Human Genetics, University of Goettingen 1 2 4 0 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 3 0 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 2 0 0 0 0 0 6
3billion, Medical Genetics 5 0 1 0 0 0 0 6
DBGen Ocular Genomics 3 1 2 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 4 0 0 0 0 5
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 0 0 3
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 1 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 1 0 3
Genetics and Molecular Pathology, SA Pathology 1 1 1 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 0 0 0 0 0 0 3
Athena Diagnostics 0 0 0 0 2 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 2 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 2 0 0 0 0 2
Department of Medical Genetics, College of Basic Medicine, Army Medical University 0 2 0 0 0 0 0 2
Matlow's Ophthalmo-genetic Laboratory, Assaf Harofe Medical Center 0 2 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 0 2
Revvity Omics, Revvity 1 0 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 1
Centre for Molecular Medicine and Therapeutics, University of British Columbia 0 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 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 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 0 1 0 0 0 0 1
Neurogenetics and Molecular Medicine Laboratory, Institut De Recerca Sant Joan De Déu 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 0 1

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