ClinVar Miner

Variants studied for Autosomal dominant optic atrophy classic form

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 not provided total
35 23 67 15 41 10 183

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OPA1 33 21 66 15 40 10 177
LOC126806913, OPA1 2 1 1 0 1 0 5
ATP13A3, CPN2, FAM43A, GP5, HES1, LRRC15, LSG1, OPA1, TMEM44 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 54 15 40 0 109
MGZ Medical Genetics Center 5 4 4 0 0 0 13
OMIM 11 0 0 0 0 0 11
Mendelics 2 3 2 0 2 0 9
GeneReviews 0 0 0 0 0 9 9
Institute of Human Genetics, University of Leipzig Medical Center 4 2 1 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 4 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 1 0 0 0 0 4
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
3billion 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Athena Diagnostics 0 0 0 0 2 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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 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
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
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 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
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
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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