ClinVar Miner

Variants studied for optic atrophy

Included ClinVar conditions (52):
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
165 85 365 187 204 2 55 1004

Gene and significance breakdown #

Total genes and gene combinations: 55
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
OPA3 8 4 209 131 79 0 4 431
OPA1 46 33 72 15 40 0 12 204
ATP1A3 8 10 9 11 50 0 0 84
LOC130064709, OPA3 1 1 13 19 3 0 1 37
AFG3L2 12 2 5 0 4 0 1 24
ACO2 2 1 7 3 7 0 1 20
RTN4IP1 7 1 8 0 2 0 0 18
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-ND1 9 2 1 0 0 0 9 12
MT-ND6 6 0 1 0 0 1 9 12
MT-ATP6 8 3 2 0 0 0 2 11
ACO2, POLR3H 3 3 4 0 0 0 0 10
YME1L1 1 0 2 0 6 0 0 9
MT-CYB 4 0 3 0 0 0 2 8
LOC126806913, OPA1 3 1 2 0 1 0 0 7
MECR 1 6 1 0 0 0 0 7
MT-ND4 3 0 2 0 0 0 3 6
ATP1A3, LOC130064543 0 0 3 0 1 0 0 4
SSBP1 4 1 0 0 0 0 0 4
AFG3L2, TUBB6 1 0 1 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
PMPCA 2 0 0 0 0 0 0 2
ABITRAM, ACTL7A, CTNNAL1, ELP1, MIR32, TMEM245 0 0 1 0 0 0 0 1
ACO2, LOC130067544 0 1 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 1 0 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
CYRIA, DDX1, MYCN, MYCNOS 0 1 0 0 0 0 0 1
DNAJC30, LOC129998603 1 0 0 0 0 0 0 1
ISCA2 0 1 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 0 0 1 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
OAT 0 1 0 0 0 0 0 1
PIGQ 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
SNAP25 0 1 0 0 0 0 0 1
WDR45 0 1 0 0 0 0 0 1
ZNF236 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 82
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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 8 4 108 149 5 0 0 274
Genome-Nilou Lab 0 0 0 0 85 0 0 85
OMIM 78 0 1 0 0 1 0 80
GeneReviews 0 0 3 0 0 0 45 48
Fulgent Genetics, Fulgent Genetics 7 2 19 16 2 0 0 46
Mendelics 33 4 3 0 2 0 0 42
MGZ Medical Genetics Center 7 5 7 0 0 0 0 19
Baylor Genetics 4 4 7 0 0 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 10 3 2 0 0 0 0 14
Genomics England Pilot Project, Genomics England 6 8 0 0 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 0 12 12
Neurogenetics, IRCCS Istituto delle Scienze Neurologiche di Bologna 11 0 0 0 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 3 3 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 6 0 0 0 0 9
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 6 3 0 0 0 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 1 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
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 3 0 0 0 0 0 7
Institute of Human Genetics, University of Goettingen 1 2 3 0 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 0 0 6
3billion 5 0 1 0 0 0 0 6
DBGen Ocular Genomics 3 1 2 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 1 0 4
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
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
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
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 2 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 0 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
New York Genome Center 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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
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
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 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
Unit of Genetics of Neurodegenerative and Metabolic Disease, Fondazione IRCCS Istituto Neurologico Carlo Besta 1 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 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
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 0 1

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