ClinVar Miner

Variants in gene combination ATM, C11orf65

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Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
1290 703 3793 2304 806 89 7382

Condition and significance breakdown #

Total conditions: 82
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ataxia-telangiectasia syndrome 849 305 2812 1552 96 10 5379
Hereditary cancer-predisposing syndrome 612 269 2388 1234 39 0 4320
Familial cancer of breast 514 298 433 391 649 4 2130
not provided 175 122 709 227 102 11 1241
not specified 1 0 288 377 75 17 691
Familial cancer of breast; Ataxia-telangiectasia syndrome 50 46 97 12 1 14 212
ATM-related disorder 19 8 75 47 1 0 150
ATM-related cancer predisposition 43 20 50 11 2 0 125
Breast and/or ovarian cancer 13 14 33 29 7 0 96
Hereditary breast ovarian cancer syndrome 7 8 27 37 17 0 96
Malignant tumor of breast 16 8 32 22 7 0 85
Familial colorectal cancer type X 9 0 23 9 0 0 41
Gastric cancer 28 0 0 0 0 4 32
Neoplasm 2 10 10 0 0 0 22
Inherited breast cancer and ovarian cancer 14 1 1 0 0 0 16
Breast carcinoma 4 5 1 0 0 0 10
Hereditary cancer 0 1 2 7 0 0 10
Malignant tumor of urinary bladder 10 0 0 0 0 0 10
Ovarian cancer 0 3 0 0 6 0 9
Breast-ovarian cancer, familial, susceptibility to, 1 2 0 6 0 0 0 8
Tip-toe gait 2 5 1 0 0 0 8
Abnormal central motor function 5 2 0 0 0 0 7
Carcinoma of colon 1 0 3 3 0 0 7
Melanoma 0 0 0 0 0 7 7
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Ataxia-telangiectasia syndrome; Breast cancer, susceptibility to 4 2 0 0 0 0 6
Ataxia-telangiectasia syndrome; Malignant tumor of breast 0 0 0 0 0 6 6
Familial ovarian cancer 1 0 5 0 0 0 6
Ataxia - telangiectasia variant 5 0 0 0 0 0 5
Familial prostate cancer 5 0 0 0 0 0 5
Acute myeloid leukemia 0 0 0 0 0 4 4
Ataxia-telangiectasia syndrome; Hereditary cancer-predisposing syndrome 0 0 0 0 0 4 4
Breast cancer, susceptibility to 4 0 0 0 0 0 4
Carcinoma of pancreas 3 1 0 0 0 0 4
Colorectal cancer 4 0 0 0 0 0 4
See cases 2 1 1 0 0 0 4
Breast neoplasm 2 0 1 0 0 0 3
Breast-ovarian cancer, familial, susceptibility to, 2 0 0 0 1 2 0 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Astrocytoma IDH-mutant 0 0 2 0 0 0 2
Ataxia-telangiectasia without immunodeficiency 2 0 0 0 0 0 2
C11orf65-related disorder 0 0 0 2 0 0 2
Diffuse midline glioma, H3 K27M-mutant 2 0 0 0 0 0 2
Endometrial carcinoma 0 0 1 1 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Inherited prostate cancer 2 0 0 0 0 0 2
Intellectual disability 0 0 1 0 1 0 2
Mantle cell lymphoma 2 0 0 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
T-cell prolymphocytic leukemia 2 0 0 0 0 0 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Adenocarcinoma 0 1 0 0 0 0 1
Astroblastoma, MN1-altered 0 0 1 0 0 0 1
Ataxia telangiectasi 1 0 0 0 0 0 1
Ataxia-telangiectasia syndrome; Hereditary cancer 0 0 0 0 0 1 1
Breast cancer, early-onset 0 0 1 0 0 0 1
CUP (carcinoma unknown primary) syndrome 0 0 1 0 0 0 1
Cancer or benign tumor 0 0 1 0 0 0 1
Cerebellar ataxia; Seizure 1 0 0 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Childhood neoplasm 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 1 0 0 0 0 0 1
Colonic neoplasm 1 0 0 0 0 0 1
Colorectal polyposis 0 0 1 0 0 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 1 0 0 0 0 0 1
Familial pancreatic carcinoma 0 0 1 0 0 0 1
Glioblastoma 0 1 0 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 1
Koolen-de Vries syndrome 1 0 0 0 0 0 1
Malignant glioma 1 0 0 0 0 0 1
Malignant tumor of thyroid gland 0 0 1 0 0 0 1
Medulloblastoma WNT activated 0 1 0 0 0 0 1
Medulloblastoma non-WNT/non-SHH 0 1 0 0 0 0 1
Multifocal breast carcinoma 0 1 0 0 0 0 1
Multiple endocrine neoplasia, type 1 0 0 1 0 0 0 1
NICE approved PARP inhibitor treatment 1 0 0 0 0 0 1
Papillary renal cell carcinoma type 1 1 0 0 0 0 0 1
Papillary thyroid carcinoma 0 0 1 0 0 0 1
Thymoma 0 0 0 0 0 1 1
Uterine corpus cancer 1 0 0 0 0 0 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 189
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 817 147 2632 1525 55 0 5176
Ambry Genetics 566 223 2029 963 17 0 3798
Myriad Genetics, Inc. 448 164 2 366 643 0 1622
Color Diagnostics, LLC DBA Color Health 166 63 797 552 19 0 1597
GeneDx 133 72 572 297 110 1 1185
Baylor Genetics 127 142 349 0 0 0 618
Natera, Inc. 62 67 393 12 7 0 541
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 89 40 211 122 18 0 480
Department of Pathology and Laboratory Medicine, Sinai Health System 39 9 167 81 8 0 304
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 16 18 82 117 16 0 249
Quest Diagnostics Nichols Institute San Juan Capistrano 32 12 159 25 15 0 243
Sema4, Sema4 15 14 104 62 11 0 206
PreventionGenetics, part of Exact Sciences 19 8 80 62 14 0 183
Counsyl 17 77 60 15 3 0 172
CeGaT Center for Human Genetics Tuebingen 36 13 61 55 6 0 171
Fulgent Genetics, Fulgent Genetics 42 32 92 4 1 0 171
Mendelics 25 9 76 26 24 0 160
Illumina Laboratory Services, Illumina 1 2 91 9 20 0 123
Athena Diagnostics 13 6 67 16 13 0 115
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 11 11 33 29 7 0 91
Genetic Services Laboratory, University of Chicago 14 2 47 19 6 0 88
Mayo Clinic Laboratories, Mayo Clinic 9 3 41 14 6 0 73
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 8 5 15 17 13 0 58
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen 24 13 17 2 1 0 57
KCCC/NGS Laboratory, Kuwait Cancer Control Center 3 5 21 5 23 0 57
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 2 1 26 17 9 0 55
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 2 0 6 26 17 0 51
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 0 12 19 15 0 50
Molecular Pathology, Peter Maccallum Cancer Centre 19 3 27 0 0 0 49
Breakthrough Genomics, Breakthrough Genomics 0 0 1 23 21 0 45
GeneKor MSA 17 7 20 0 0 0 44
Revvity Omics, Revvity 26 5 13 0 0 0 44
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 5 0 3 14 14 0 36
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 1 29 0 0 0 36
Dr. Peter K. Rogan Lab, Western University 0 2 0 0 0 32 34
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 9 3 13 9 0 0 34
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 6 1 7 12 4 0 30
MGZ Medical Genetics Center 7 3 20 0 0 0 30
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 5 4 9 10 0 0 28
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 4 2 21 1 0 0 28
Laboratory for Genotyping Development, RIKEN 28 0 0 0 0 0 28
3billion 17 6 4 0 0 0 27
Eurofins Ntd Llc (ga) 4 0 17 2 4 0 27
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 27 27
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 6 0 10 7 3 0 26
Genome Diagnostics Laboratory, Amsterdam University Medical Center 4 0 5 8 8 0 25
Institute of Human Genetics, University of Leipzig Medical Center 13 1 10 0 0 0 23
Neuberg Centre For Genomic Medicine, NCGM 4 6 14 0 0 0 23
BRCAlab, Lund University 18 3 0 0 0 0 21
Spanish ATM Cancer Susceptibility Variant Interpretation Working Group 4 5 11 1 0 0 21
Clinical Genetics Laboratory, Skane University Hospital Lund 10 6 2 1 0 0 19
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 15 3 1 0 0 0 19
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 0 3 11 3 0 19
Dasa 12 0 1 3 2 0 18
Genome-Nilou Lab 1 1 7 3 5 0 17
ITMI 0 0 0 0 0 17 17
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 9 6 2 0 0 0 17
OMIM 17 0 0 0 0 0 17
True Health Diagnostics 0 0 6 9 0 0 15
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 8 4 0 14
University of Washington Department of Laboratory Medicine, University of Washington 1 1 2 10 0 0 14
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 7 1 4 0 1 0 13
Clinical Genetics, Academic Medical Center 0 0 2 4 7 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 7 4 1 0 0 0 12
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 3 6 3 0 0 0 12
Genesis Genomics 6 6 0 0 0 0 12
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 3 1 5 3 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 1 0 0 0 0 12
GeneReviews 3 0 0 0 0 7 10
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 6 4 0 0 0 0 10
Institute of Immunology and Genetics Kaiserslautern 3 0 7 0 0 0 10
Laboratory of Urology, Hospital Clinic de Barcelona 10 0 0 0 0 0 10
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 5 5 0 0 0 0 10
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 1 8 0 0 0 9
Division of Medical Genetics, University of Washington 1 0 8 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 9 9
King Laboratory, University of Washington 6 0 0 0 3 0 9
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 3 0 0 6 0 9
CZECANCA consortium 5 3 0 0 0 0 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 6 2 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 1 6 1 0 0 0 8
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 1 1 3 2 0 8
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 2 5 1 0 0 0 8
Academic Department of Medical Genetics, University of Cambridge 2 5 0 0 0 0 7
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 7 0 0 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 3 0 0 0 0 7
Kariminejad - Najmabadi Pathology & Genetics Center 5 2 0 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 3 0 0 0 7
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 7 0 7
Genetics and Molecular Pathology, SA Pathology 5 1 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 0 1 0 0 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 2 1 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 2 1 0 0 0 5
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences 4 1 0 0 0 0 5
Institute of Human Genetics Munich, TUM University Hospital 3 2 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 2 0 0 0 5
Blueprint Genetics 2 0 2 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 2 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 0 0 0 0 4
Institute of Human Genetics, Heidelberg University 3 1 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 0 0 0 0 4
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 2 0 2 0 0 0 4
MVZ Praenatalmedizin und Genetik Nuernberg 0 3 1 0 0 0 4
Variantyx, Inc. 4 0 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 2 0 0 0 4
AiLife Diagnostics, AiLife Diagnostics 1 1 1 0 0 0 3
Catlab - Consorci Sanitari de Terrassa 0 0 3 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 1 0 0 3
Department of Human Genetics, Hannover Medical School 1 0 2 0 0 0 3
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 0 0 0 1 2 0 3
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 3 0 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 2 1 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 1 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 3 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 0 0 0 0 0 3
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 1 1 0 0 0 3
NHS Central & South Genomic Laboratory Hub 3 0 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 2
CSER _CC_NCGL, University of Washington 1 0 1 0 0 0 2
Center of Medical Genetics and Primary Health Care 0 0 1 1 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 2 0 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 0 0 0 0 0 2
NxGen MDx 0 2 0 0 0 0 2
Pars Genome Lab 0 0 0 2 0 0 2
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 0 0 0 0 0 1
Biotechnology, Institute of Science, Nirma University 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Clinical and Functional Genomics Group, A.C.Camargo Cancer Center 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Department of Genomics, ADN Uruguay 1 0 0 0 0 0 1
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Franklin by Genoox 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genomic Center, National Cancer Institute 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 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
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 0 1 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 1 0 0 1
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 0 0 1 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Mayo Clinic Health System - Franciscan Health care, Mayo Clinic Health System 0 0 1 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Michigan Center for Translational Pathology, University of Michigan 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 0 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Otogenetics 0 1 0 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 0 1 0 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 0 0 1 1 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 1 0 0 0 0 0 1
Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu 0 0 1 0 0 0 1
Sanfordhealth-Fargo, Sanfordhealth 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 1
Yang An-Suei Laboratory, Academia Sinica 1 0 0 0 0 0 1

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