ClinVar Miner

Variants studied for autosomal dominant optic atrophy

Included ClinVar conditions (14):
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 not provided total
78 58 316 178 180 16 802

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OPA3 8 4 210 131 79 4 432
OPA1 51 37 75 15 40 11 214
ATP1A3 10 12 10 11 50 0 89
LOC130064709, OPA3 1 1 14 19 3 1 38
DNM1L 5 2 2 2 4 0 15
LOC126806913, OPA1 3 1 2 0 1 0 7
ATP1A3, LOC130064543 0 0 3 0 1 0 4
DNM1L, YARS2 0 0 0 0 2 0 2
ATP13A3, CPN2, FAM43A, GP5, HES1, LRRC15, LSG1, OPA1, TMEM44 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 166 16 118 0 300
Labcorp Genetics (formerly Invitae), Labcorp 8 4 108 149 5 0 274
Genome-Nilou Lab 0 0 0 0 65 0 65
Fulgent Genetics, Fulgent Genetics 6 1 11 13 2 0 33
OMIM 23 0 0 0 0 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 3 4 0 0 0 16
MGZ Medical Genetics Center 5 4 5 0 0 0 14
GeneReviews 0 0 0 0 0 12 12
Mendelics 3 4 2 0 2 0 11
Baylor Genetics 2 4 4 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 6 2 2 0 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 2 0 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 3 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 4 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 1 0 0 0 0 5
Genomics England Pilot Project, Genomics England 2 3 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
3billion 4 0 0 0 0 0 4
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 0 3
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 1 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 1 1 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 0 3
Athena Diagnostics 0 0 0 0 2 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 2 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
DBGen Ocular Genomics 1 1 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 2 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Centre for Molecular Medicine and Therapeutics, University of British Columbia 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 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 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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