ClinVar Miner

Variants in gene TSC2

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Gene type:

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 drug response other not provided total
1295 436 5982 4990 2676 2 2 1673 12418

Condition and significance breakdown #

Total conditions: 80
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Tuberous sclerosis 2 988 270 3708 4018 2572 0 0 12 9702
Hereditary cancer-predisposing syndrome 140 54 3205 2305 186 0 0 0 5700
Tuberous sclerosis syndrome 81 25 1210 926 207 0 0 1570 3600
not provided 370 108 1089 799 212 0 0 9 2362
not specified 2 0 93 445 217 0 0 55 691
Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 41 18 342 177 21 0 0 0 594
TSC2-related disorder 23 13 111 216 13 0 0 1 377
Isolated focal cortical dysplasia type II 7 7 262 1 0 0 0 0 277
Lymphangiomyomatosis 23 1 11 1 1 0 0 21 56
Lymphangiomyomatosis; Tuberous sclerosis syndrome 0 0 0 0 0 0 0 18 18
Ovarian cancer 0 11 0 0 6 0 0 0 17
Autism spectrum disorder 0 1 0 1 0 0 0 12 14
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 0 10 10
Cervical cancer 0 0 0 0 0 0 0 9 9
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 0 8 8
Intellectual disability 0 0 4 0 3 0 0 0 7
Tuberous sclerosis 1 5 0 2 0 0 0 0 0 7
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 0 6 6
Hepatocellular carcinoma 0 0 0 0 0 0 0 5 5
Lung cancer 0 0 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 0 0 5 5
Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 0 0 0 4 0 0 0 0 4
Neoplasm 0 1 3 0 0 0 0 0 4
See cases 1 1 2 0 0 0 0 0 4
Subependymal giant-cell astrocytoma 4 0 0 0 0 0 0 0 4
Thymoma 0 0 0 0 0 0 0 4 4
Tuberous sclerosis syndrome; Lung lymphangioleiomyomatosis 0 0 1 1 2 0 0 0 4
Cholangiocarcinoma 0 0 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 0 0 3 3
Colorectal cancer 0 0 0 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 1 0 0 0 0 1 2
Everolimus response 0 0 0 0 0 2 0 0 2
Familial prostate cancer 0 0 0 0 0 0 0 2 2
Renal cyst 0 0 1 1 0 0 0 0 2
Seizure 0 0 2 0 0 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 0 0 2 2
Abnormal cerebral morphology 0 0 1 0 0 0 0 0 1
Abnormality of the nervous system 1 0 0 0 0 0 0 0 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 0 0 1 1
Astroblastoma, MN1-altered 0 0 1 0 0 0 0 0 1
Autism spectrum disorder; Tuberous sclerosis syndrome 1 0 0 0 0 0 0 0 1
Bone osteosarcoma 0 0 0 0 0 0 1 0 1
Colon adenocarcinoma 0 0 0 0 0 0 0 1 1
Congenital anomaly of kidney and urinary tract 0 0 1 0 0 0 0 0 1
Cortical tubers 0 1 0 0 0 0 0 0 1
Cortical tubers; Focal cortical dysplasia 1 0 0 0 0 0 0 0 1
Cortical tubers; Neoplasm 0 1 0 0 0 0 0 0 1
Cystic fibrosis 0 0 1 0 0 0 0 0 1
Dental enamel pits; Hamartoma 1 0 0 0 0 0 0 0 1
Dilated cardiomyopathy 1D 0 0 0 1 0 0 0 0 1
Dystonia, early-onset, and/or spastic paraplegia 0 0 0 0 1 0 0 0 1
Embryonal rhabdomyosarcoma 0 1 0 0 0 0 0 0 1
Epilepsy 0 0 0 1 0 0 0 0 1
Hirschsprung disease, susceptibility to, 1 0 0 1 0 0 0 0 0 1
Hypertrophic cardiomyopathy 7 0 0 0 1 0 0 0 0 1
Lung lymphangioleiomyomatosis 0 0 0 0 1 0 0 0 1
Lymphoma 0 0 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 0 0 1 1
Neoplasm of brain 0 0 0 0 0 0 0 1 1
Neuroblastoma 0 0 0 0 0 0 1 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 0 1 1
Recurrent fever 0 0 1 0 0 0 0 0 1
Rhabdomyoma 0 1 0 0 0 0 0 0 1
Seizure; Neurodevelopmental delay 0 0 1 0 0 0 0 0 1
Severe intellectual disability; Infantile spasms 1 0 0 0 0 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 0 0 1 1
Tall stature; Cafe-au-lait spot; Joint hypermobility; Arthralgia; Hyperextensible hand joints; Hyperextensibility at elbow 0 0 1 0 0 0 0 0 1
Tuberous sclerosis 2; Tuberous sclerosis syndrome 1 0 0 0 0 0 0 0 1
Tuberous sclerosis and lymphangiomyomatosis 0 0 1 0 0 0 0 0 1
Uveal melanoma 0 0 0 0 0 0 0 1 1
Vascular dementia 0 0 1 0 0 0 0 0 1
Vesicoureteral reflux 8 0 0 1 0 0 0 0 0 1
Xanthinuria type II 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 167
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 821 116 3309 3578 1357 0 0 0 9181
Ambry Genetics 138 54 3089 2267 85 0 0 0 5633
Myriad Genetics, Inc. 12 9 0 725 1475 0 0 0 2221
GeneDx 270 56 719 721 257 0 0 0 2023
Genome-Nilou Lab 92 28 387 403 714 0 0 0 1624
Tuberous sclerosis database (TSC2) 0 0 0 0 0 0 0 1596 1596
All of Us Research Program, National Institutes of Health 4 2 846 538 104 0 0 0 1494
Color Diagnostics, LLC DBA Color Health 2 3 485 566 185 0 0 0 1241
Sema4, Sema4 0 0 186 244 123 0 0 0 553
Fulgent Genetics, Fulgent Genetics 21 14 310 161 3 0 0 0 509
CeGaT Center for Human Genetics Tuebingen 45 11 95 320 29 0 0 0 500
PreventionGenetics, part of Exact Sciences 23 12 111 272 67 0 0 0 485
Quest Diagnostics Nichols Institute San Juan Capistrano 6 5 173 46 82 0 0 0 311
Baylor Genetics 10 8 271 1 0 0 0 0 290
Athena Diagnostics 100 23 47 9 67 0 0 0 245
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 5 54 97 52 0 0 0 221
Illumina Laboratory Services, Illumina 3 1 94 64 46 0 0 0 208
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 23 10 23 48 57 0 0 0 161
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 26 105 0 0 0 131
Mayo Clinic Laboratories, Mayo Clinic 21 7 33 35 31 0 0 0 127
Eurofins Ntd Llc (ga) 8 2 64 27 20 0 0 0 121
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 84 16 6 5 0 0 0 0 111
Breakthrough Genomics, Breakthrough Genomics 1 0 2 60 40 0 0 0 103
Department of Pathology and Laboratory Medicine, Sinai Health System 11 3 24 30 28 0 0 0 96
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 3 12 54 0 0 0 72
Genetic Services Laboratory, University of Chicago 2 3 13 38 14 0 0 0 70
3billion 27 20 13 4 0 0 0 0 64
Clinical Genetics, Academic Medical Center 0 0 0 32 31 0 0 0 63
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 0 61 61
Revvity Omics, Revvity 9 9 41 0 0 0 0 0 59
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 13 3 8 13 20 0 0 0 57
ITMI 0 0 0 0 0 0 0 55 55
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 53 2 0 0 0 0 55
Mendelics 21 4 5 10 7 0 0 0 47
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 2 26 17 0 0 0 45
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 24 5 6 3 4 0 0 0 42
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 32 8 0 0 0 0 42
Institute of Human Genetics, University of Leipzig Medical Center 18 8 10 2 0 0 0 0 38
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 17 6 10 1 0 0 0 0 34
Laboratory of Genetics, Children's Clinical University Hospital Latvia 6 1 0 19 7 0 0 0 33
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 8 3 18 3 0 0 0 0 32
Juno Genomics, Hangzhou Juno Genomics, Inc 22 7 2 0 0 0 0 0 31
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 12 11 3 0 0 0 26
Center for Human Genetics, Inc, Center for Human Genetics, Inc 11 7 5 0 0 0 0 0 23
Clinical Genomics Laboratory, Washington University in St. Louis 5 2 16 0 0 0 0 0 23
Neuberg Centre For Genomic Medicine, NCGM 8 8 6 0 0 0 0 0 22
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 4 9 5 0 0 0 20
Oasi Research Institute-IRCCS 17 3 0 0 0 0 0 0 20
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 1 8 1 1 0 0 0 19
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 0 2 10 4 0 0 0 19
CSER _CC_NCGL, University of Washington 0 0 13 4 1 0 0 0 18
NHS Central & South Genomic Laboratory Hub 14 4 0 0 0 0 0 0 18
OMIM 18 0 0 0 0 0 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 0 6 1 0 0 0 0 18
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 11 0 0 6 0 0 0 17
Johns Hopkins Genomics, Johns Hopkins University 0 0 9 4 3 0 0 0 16
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 14 2 0 0 0 16
Molecular Pathology, Peter Maccallum Cancer Centre 7 0 8 1 0 0 0 0 16
Dasa 9 0 1 2 3 0 0 0 15
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 9 0 0 0 15
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 3 10 0 0 0 0 0 0 13
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 10 1 0 0 0 0 0 0 11
MGZ Medical Genetics Center 4 0 7 0 0 0 0 0 11
MVZ Medizinische Genetik Mainz 4 1 6 0 0 0 0 0 11
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 1 5 0 0 0 10
Gharavi Laboratory, Columbia University 0 1 9 0 0 0 0 0 10
New York Genome Center 0 0 10 0 0 0 0 0 10
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 8 0 0 0 0 0 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 2 5 0 0 0 0 0 9
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 4 4 0 1 0 0 0 0 9
Dubai Health Genomic Medicine Center, Dubai Health 6 0 1 1 0 0 0 0 8
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 3 2 2 0 0 0 0 0 7
GeneReviews 0 0 0 0 0 0 0 7 7
Molecular Biology Laboratory, Fundació Puigvert 6 1 0 0 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 2 0 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 4 1 1 0 0 0 0 0 6
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 0 6 6
Clinical Genetics Laboratory, Skane University Hospital Lund 3 1 1 0 0 0 0 0 5
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 3 0 0 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 4 0 0 0 0 0 0 0 4
Centre of Medical Genetics, University Hospital Muenster 1 1 2 0 0 0 0 0 4
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 3 1 0 0 0 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 3 1 0 0 0 0 0 0 4
Institute of Human Genetics, Cologne University 2 0 2 0 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 0 0 0 0 0 0 0 4
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 2 2 0 0 0 4
Medical and Scientific Branch, Hong Kong Genome Institute 2 2 0 0 0 0 0 0 4
Variantyx, Inc. 4 0 0 0 0 0 0 0 4
deCODE genetics, Amgen 0 4 0 0 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 2 0 0 0 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 1 0 0 0 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 0 3 0 0 0 0 0 3
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 1 0 0 0 0 0 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 2 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 1 1 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 0 0 3
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 2 0 1 0 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 0 0 3
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 0 0 3 0 0 0 0 0 3
Suma Genomics 3 0 0 0 0 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 3 0 0 0 3
Vantari Genetics 0 0 0 1 2 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1 0 0 0 0 2
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 2 0 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 0 0 2
Department of Neurology, Zibo Changguo Hospital 2 0 0 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 0 0 0 2
Division of Hematology/Oncology, Florida, Mayo Clinic 0 0 0 0 0 2 0 0 2
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 0 2 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Hereditary Cancer Clinic, Medical College of Georgia 0 2 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 0 2
Liping Wei Laboratory, Peking University 1 1 0 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 1 0 0 0 2
Otogenetics 0 0 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 0 2
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 0 1 0 0 0 1
CGC Genetics, Unilabs 1 0 0 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 0 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 0 0 1
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 0 0 1
Department of Medical Genetics, University of Pecs 0 0 1 0 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 0 1
Neurology Department, Shenzhen Children's Hospital 0 0 0 1 0 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 1 0 0 0 0 0 0 1
Tuberous Sclerosis Complex New Zealand 1 0 0 0 0 0 0 0 1
Warsaw Genomics 1 0 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 0 1

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