ClinVar Miner

Variants in gene CHEK2

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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 association not provided total
923 481 2388 1253 423 1 81 4689

Condition and significance breakdown #

Total conditions: 92
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Familial cancer of breast 752 328 1830 881 358 0 3 3714
Hereditary cancer-predisposing syndrome 372 189 1547 671 12 0 0 2652
not provided 94 122 521 125 60 0 29 849
not specified 2 0 213 224 27 0 10 440
CHEK2-related cancer predisposition 31 44 102 13 10 0 20 183
Hereditary breast ovarian cancer syndrome 37 42 40 11 13 0 0 136
CHEK2-related disorder 9 8 68 21 1 0 0 106
CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer 15 16 47 6 0 0 1 83
Malignant tumor of breast 12 8 50 10 3 0 0 83
Breast and/or ovarian cancer 8 14 36 11 2 0 0 70
Hereditary nonpolyposis colon cancer 6 4 27 11 0 0 0 48
Familial cancer of breast; CHEK2-related cancer predisposition; Bone osteosarcoma; Prostate cancer 7 1 29 0 0 0 0 37
Predisposition to cancer 6 6 19 1 0 0 0 32
Familial cancer of breast; CHEK2-related cancer predisposition; Bone osteosarcoma; Prostate cancer; Colorectal cancer 2 2 18 1 0 0 0 23
Gastric cancer 19 0 0 0 0 0 1 20
Breast-ovarian cancer, familial, susceptibility to, 1 8 4 3 0 0 0 0 15
Inherited breast cancer and ovarian cancer 4 4 6 0 0 0 0 13
Breast and colorectal cancer, susceptibility to 5 5 2 0 0 0 0 12
Li-Fraumeni syndrome 2 2 6 2 0 0 0 12
Prostate cancer 5 1 5 0 0 0 0 11
Breast carcinoma 5 4 1 0 0 0 0 10
Familial prostate cancer 2 0 7 1 0 0 0 10
Breast-ovarian cancer, familial, susceptibility to, 2 0 1 0 0 8 0 0 9
Hereditary cancer 0 0 1 6 0 0 1 8
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 8 8
CHEK2-related cancer predisposition; Familial prostate cancer 2 0 4 1 0 0 0 7
Colorectal cancer 5 1 1 0 0 0 0 7
Bone osteosarcoma 3 1 2 0 0 0 0 6
Breast neoplasm 3 2 1 0 0 0 0 6
Familial ovarian cancer 1 0 5 0 0 0 0 6
Breast cancer, susceptibility to; Prostate cancer susceptibility 1 4 0 0 0 0 0 5
Carcinoma of pancreas 3 1 0 0 0 0 0 4
Endometrial carcinoma 2 0 2 0 0 0 0 4
Familial cancer of breast; CHEK2-related cancer predisposition 4 0 0 0 0 0 0 4
Breast cancer, susceptibility to 3 0 0 0 0 0 0 3
Hepatocellular carcinoma 0 0 0 0 0 0 3 3
Inherited prostate cancer 2 1 0 0 0 0 0 3
Li-Fraumeni syndrome 1 1 2 0 0 0 0 0 3
Li-Fraumeni syndrome; Hereditary breast ovarian cancer syndrome; Familial colorectal cancer type X 0 0 2 1 0 0 0 3
Malignant tumor of esophagus 0 0 0 0 0 0 3 3
Neoplasm 0 1 2 0 0 0 0 3
See cases 0 2 1 0 0 0 0 3
Carcinoma of colon 0 0 2 0 0 0 0 2
Familial cancer of breast; CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer 1 1 0 0 0 0 0 2
Familial cancer of breast; CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer; Colorectal cancer 0 1 1 0 0 0 0 2
Familial cancer of breast; Familial prostate cancer 0 2 0 0 0 0 0 2
Familial cancer of breast; Prostate cancer; Colorectal cancer 1 0 0 0 0 0 1 2
Lung cancer 0 0 0 0 0 0 2 2
Sarcoma 1 0 0 0 0 0 1 2
TUMOR PREDISPOSITION SYNDROME 4, BREAST 2 0 0 0 0 0 0 2
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE 2 0 0 0 0 0 0 2
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL 2 0 0 0 0 0 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 0 1 1
Astrocytoma 0 0 1 0 0 0 0 1
Breast cancer, familial male 0 1 0 0 0 0 0 1
Breast neoplasm; Leiomyosarcoma 1 0 0 0 0 0 0 1
CHEK2-related cancer risk 1 0 0 0 0 0 0 1
Cancer or benign tumor 1 0 0 0 0 0 0 1
Cervical cancer 0 0 0 0 0 0 1 1
Childhood neoplasm 1 0 0 0 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 0 1 1
Colon cancer 0 1 0 0 0 0 0 1
Colonic neoplasm 0 1 0 0 0 0 0 1
Congenital heart defects, multiple types, 3 1 0 0 0 0 0 0 1
Cystic fibrosis 0 1 0 0 0 0 0 1
Diffuse midline glioma, H3 K27-altered 0 0 1 0 0 0 0 1
Familial cancer of breast; CHEK2-related cancer predisposition; Hereditary breast ovarian cancer syndrome 0 1 0 0 0 0 0 1
Familial cancer of breast; CHEK2-related cancer predisposition; Prostate cancer; Colorectal cancer 0 0 0 0 0 0 1 1
Familial cancer of breast; Colorectal cancer 0 0 0 0 0 0 1 1
Familial cancer of breast; Familial prostate cancer; Colorectal cancer 1 0 0 0 0 0 0 1
Familial cancer of breast; Lung carcinoma; Prostate cancer; Carcinoma of colon 0 1 0 0 0 0 0 1
Familial cancer of breast; Ovarian neoplasm; Lung cancer 0 0 1 0 0 0 0 1
Gastrointestinal carcinoma; Adrenal cortex carcinoma 0 0 1 0 0 0 0 1
Incidental Discovery 0 1 0 0 0 0 0 1
Li-Fraumeni syndrome; Familial colorectal cancer type X 0 0 1 0 0 0 0 1
Li-Fraumeni syndrome; Hereditary breast ovarian cancer syndrome 0 0 1 0 0 0 0 1
Lynch syndrome 1 0 1 0 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 1 0 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 0 1 1
Melanoma 1 0 0 0 0 0 1 1
NICE approved PARP inhibitor treatment 1 0 0 0 0 0 0 1
NK-cell enteropathy 0 1 0 0 0 0 0 1
Nephroblastoma 1 0 0 0 0 0 0 1
Ovarian carcinoma 1 0 0 0 0 0 0 1
Ovarian neoplasm 1 0 0 0 0 0 0 1
Premature ovarian failure 1 0 0 0 0 0 0 1
Prostate cancer, somatic 1 0 0 0 0 0 0 1
Thymoma 0 0 0 0 0 0 1 1
Triple-negative breast cancer 0 0 0 0 0 1 0 1
Uterine carcinosarcoma 0 0 0 0 0 0 1 1
Uterine corpus cancer 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 161
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 609 184 1769 769 23 0 0 3354
Ambry Genetics 351 149 1366 505 5 0 0 2376
Myriad Genetics, Inc. 326 139 65 220 341 0 0 1091
Color Diagnostics, LLC DBA Color Health 82 51 520 278 8 0 0 939
GeneDx 41 81 404 176 66 0 0 768
Baylor Genetics 47 83 246 0 0 0 0 376
Quest Diagnostics Nichols Institute San Juan Capistrano 39 25 188 34 10 0 0 296
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 39 22 155 53 9 0 0 278
Department of Pathology and Laboratory Medicine, Sinai Health System 35 16 165 45 4 0 0 264
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 9 15 79 77 3 0 0 183
Counsyl 5 30 100 26 4 0 0 165
Sema4, Sema4 11 17 100 31 3 0 0 162
CeGaT Center for Human Genetics Tuebingen 23 21 51 33 2 0 0 130
PreventionGenetics, part of Exact Sciences 8 9 73 27 6 0 0 123
Fulgent Genetics, Fulgent Genetics 12 15 87 2 0 0 0 115
Mendelics 8 16 59 24 1 0 0 108
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 6 10 36 11 2 0 0 65
Genetic Services Laboratory, University of Chicago 9 3 39 11 2 0 0 64
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 6 21 25 4 4 0 0 60
Molecular Pathology, Peter Maccallum Cancer Centre 12 9 38 1 0 0 0 60
KCCC/NGS Laboratory, Kuwait Cancer Control Center 6 4 30 2 8 0 0 48
Institute of Human Genetics, University of Leipzig Medical Center 9 17 18 1 0 0 0 44
Illumina Laboratory Services, Illumina 3 8 27 2 2 0 0 42
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 3 16 20 2 0 0 0 41
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 6 7 22 1 1 0 0 37
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 6 2 18 8 3 0 0 37
Mayo Clinic Laboratories, Mayo Clinic 6 5 22 3 1 0 0 37
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 2 5 18 9 2 0 0 36
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 5 12 8 4 0 0 35
Revvity Omics, Revvity 14 7 13 1 0 0 0 35
GeneKor MSA 5 7 20 1 1 0 0 34
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 5 4 19 4 1 0 0 33
MGZ Medical Genetics Center 6 8 19 0 0 0 0 33
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 6 19 1 0 0 0 32
University of Washington Department of Laboratory Medicine, University of Washington 4 5 2 20 0 0 0 31
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 2 3 10 7 4 0 0 26
Clinical Genetics Laboratory, Skane University Hospital Lund 13 5 8 0 0 0 0 26
Dr. Peter K. Rogan Lab, Western University 0 1 0 0 0 0 25 26
Genome Diagnostics Laboratory, Amsterdam University Medical Center 5 1 10 5 3 0 0 24
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 24 24
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 9 9 4 0 0 0 0 22
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 3 10 5 0 0 0 21
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 3 9 7 0 0 0 21
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 2 0 4 5 9 0 0 20
Genetics and Molecular Pathology, SA Pathology 7 3 9 0 0 0 0 19
Institute. of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague 0 0 0 0 0 0 19 19
Laboratory for Genotyping Development, RIKEN 19 0 0 0 0 0 0 19
Breakthrough Genomics, Breakthrough Genomics 0 0 1 7 9 0 0 17
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 10 6 0 0 0 0 0 16
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 10 0 0 0 0 0 16
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 1 13 1 0 0 0 15
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 8 5 0 0 0 0 15
OMIM 12 0 3 0 0 0 0 15
BRCAlab, Lund University 9 5 0 0 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 0 13 13
CZECANCA consortium 7 5 0 0 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 3 4 0 0 0 0 12
Dasa 4 3 2 2 1 0 0 12
Division of Medical Genetics, University of Washington 1 1 10 0 0 0 0 12
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 6 5 1 0 0 0 0 12
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 0 1 0 1 8 0 0 10
ITMI 0 0 0 0 0 0 10 10
Neuberg Centre For Genomic Medicine, NCGM 0 0 10 0 0 0 0 10
True Health Diagnostics 3 3 2 1 1 0 0 10
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 4 0 0 0 0 0 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 3 4 0 0 0 0 9
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 3 2 3 0 0 0 0 8
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 5 2 1 0 0 0 0 8
Genesis Genomics 2 6 0 0 0 0 0 8
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 5 3 0 0 0 0 0 8
Institute of Immunology and Genetics Kaiserslautern 4 3 1 0 0 0 0 8
Department of Genetics, HCU Lozano Blesa 0 5 2 0 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 4 0 1 1 1 0 0 7
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 3 3 0 0 0 0 7
Institute of Human Genetics, Heidelberg University 3 5 0 0 0 0 0 7
King Laboratory, University of Washington 5 0 0 0 2 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 4 0 0 0 0 0 7
Center of Medical Genetics and Primary Health Care 1 3 2 1 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 4 1 0 0 0 6
Laboratorio de I+D, Fundación Centro Médico de Asturias 1 0 4 0 1 0 0 6
Academic Department of Medical Genetics, University of Cambridge 2 3 0 0 0 0 0 5
Department of Human Genetics, Hannover Medical School 3 2 0 0 0 0 0 5
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 0 5 0 0 0 0 5
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 3 2 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 2 0 0 0 0 5
Clinical Genetics and Genomics, Karolinska University Hospital 2 2 0 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 0 0 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 2 2 0 0 0 0 0 4
Pathway Genomics 1 1 2 0 0 0 0 4
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 1 1 1 1 0 0 0 4
3DMed Clinical Laboratory Inc 2 0 1 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 2 0 1 0 0 0 0 3
Catlab - Consorci Sanitari de Terrassa 0 0 3 0 0 0 0 3
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 0 2 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 1 0 0 0 3
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 1 0 2 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 2 1 0 0 0 0 0 3
Molecular Oncology Research Center, Barretos Cancer Hospital 0 1 1 1 0 0 0 3
NHS Central & South Genomic Laboratory Hub 2 1 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 0 3
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 1 0 0 0 0 0 2
Breast Care Center, Daerim St. Mary`s Hospital 1 1 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 0 2
Eurofins Ntd Llc (ga) 1 0 0 0 1 0 0 2
Genetics and Personalized Medicine Clinic, Tartu University Hospital 0 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 2
ISCA site 1 0 1 1 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 0 2
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 1 0 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 0 2
OLLIN Analises Genomicas, OLLIN 0 1 1 0 0 0 0 2
Otogenetics 1 1 0 0 0 0 0 2
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 0 1 1 0 0 0 0 2
University Health Network, Princess Margaret Cancer Centre 0 1 1 0 0 0 0 2
3billion 0 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 0 1
Biotechnology, Institute of Science, Nirma University 1 0 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 0 1
Cancer Genomics Lab, PINUM Cancer Hospital 0 1 0 0 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Clinical and Functional Genomics Group, A.C.Camargo Cancer Center 1 0 0 0 0 0 0 1
Department Of Pathology & Laboratory Medicine, University Of Pennsylvania 0 1 0 0 0 0 0 1
Department of Molecular and Medical Genetics, Osaka Medical Center for Cancer and Cardiovascular Diseases 0 1 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 1
Division of Gastroenterology and Hepatology, Shanghai Institute of Digestive Disease, Shanghai Jiao Tong University School of Medicine. 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
Faculty of Pharmacy, Medical University of Gdansk 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Francois Mercier Lab, McGill University 0 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 1 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 0 0 1 0 0 0 0 1
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 0 1
Kong lab, Department of Laboratory Medicine, National Cancer Center 0 1 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 0 1
Laboratory of Molecular Neuropathology, The University of Texas Health Science Center at Houston 0 0 1 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 1 0 0 0 0 0 0 1
Molecular Oncology Laboratory, Centre Jean Perrin 0 0 0 0 0 1 0 1
Research Unit of Translational Medicine, University of Oulu 0 0 0 1 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Unit of Medical Genetics, Department of Laboratory Medicine, San Giovanni Calibita Fatebenefratelli Hospital 0 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 0 1

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