ClinVar Miner

Variants in gene ATM

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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 likely pathogenic, low penetrance risk factor not provided total
1978 904 5856 3858 1408 1 1 77 11490

Condition and significance breakdown #

Total conditions: 61
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Condition pathogenic likely pathogenic uncertain significance likely benign benign likely pathogenic, low penetrance risk factor not provided total
Ataxia-telangiectasia syndrome 1339 393 4348 2550 146 0 0 2 8424
Hereditary cancer-predisposing syndrome 870 280 3545 2199 88 0 0 0 6540
Familial cancer of breast 845 380 754 603 1225 0 0 1 3556
not provided 240 159 1123 399 162 0 0 10 1914
not specified 2 0 515 591 148 0 0 45 1165
Familial cancer of breast; Ataxia-telangiectasia syndrome 73 69 174 22 4 0 0 12 348
ATM-related disorder 28 7 111 96 2 0 0 0 244
Breast and/or ovarian cancer 9 3 74 56 31 0 0 0 173
Malignant tumor of breast 22 17 68 43 17 0 0 0 166
Hereditary breast ovarian cancer syndrome 7 8 45 55 49 0 0 0 163
ATM-related cancer predisposition 23 8 43 21 2 0 0 0 97
Familial colorectal cancer type X 9 4 33 22 1 0 0 0 69
Gastric cancer 55 0 0 0 0 0 0 0 55
Hereditary cancer 0 0 3 15 0 0 0 0 18
Malignant tumor of urinary bladder 12 0 0 0 0 0 0 0 12
Breast carcinoma 6 3 1 0 0 0 0 0 10
Carcinoma of colon 1 1 2 4 2 0 0 0 10
Ataxia-telangiectasia syndrome; Malignant tumor of breast 0 0 0 0 0 0 0 9 9
Ataxia-telangiectasia syndrome; Breast cancer, susceptibility to 6 1 1 0 0 0 0 0 8
Familial ovarian cancer 1 0 4 1 1 0 0 0 7
Familial pancreatic carcinoma 3 0 4 0 0 0 0 0 7
Ovarian cancer 0 0 0 0 7 0 0 0 7
Breast-ovarian cancer, familial, susceptibility to, 1 2 0 4 0 0 0 0 0 6
Abnormal central motor function 4 1 0 0 0 0 0 0 5
Endometrial carcinoma 3 0 2 0 0 0 0 0 5
See cases 4 0 1 0 0 0 0 0 5
Tip-toe gait 1 0 2 0 1 1 0 0 5
Diffuse midline glioma, H3 K27-altered 0 0 3 0 0 0 0 0 3
Inherited breast cancer and ovarian cancer 3 0 0 0 0 0 0 0 3
Breast cancer, susceptibility to 0 1 0 0 0 0 1 0 2
Colorectal cancer 2 0 0 0 0 0 0 0 2
Familial prostate cancer 0 2 0 0 0 0 0 0 2
Microcephaly 0 0 2 0 0 0 0 0 2
Neoplasm 2 0 0 0 0 0 0 0 2
Prostate cancer 0 1 1 0 0 0 0 0 2
T-cell prolymphocytic leukemia 2 0 0 0 0 0 0 0 2
ATM-related cancer predisposition syndrome 1 0 0 0 0 0 0 0 1
Acquired polycythemia vera; Endometrial serous adenocarcinoma 1 0 0 0 0 0 0 0 1
Ataxia - telangiectasia variant 1 0 0 0 0 0 0 0 1
Ataxia telangiectasi 1 0 0 0 0 0 0 0 1
Ataxia-telangiectasia syndrome; Hereditary cancer-predisposing syndrome 0 0 0 0 0 0 0 1 1
B-cell non-Hodgkin lymphoma 1 0 0 0 0 0 0 0 1
Bilateral breast carcinoma 0 0 1 0 0 0 0 0 1
Bile duct cancer 0 0 0 0 1 0 0 0 1
Breast neoplasm 0 0 0 0 1 0 0 0 1
Cardiac valvular dysplasia, X-linked 0 1 0 0 0 0 0 0 1
Cerebellar ataxia 1 0 0 0 0 0 0 0 1
Cerebellar ataxia; Immunodeficiency; Conjunctival telangiectasia; Oculomotor apraxia 1 0 0 0 0 0 0 0 1
Colon cancer 1 0 0 0 0 0 0 0 1
Colorectal cancer, susceptibility to, 1 0 0 1 0 0 0 0 0 1
Diffuse hemispheric glioma, H3 G34-mutant 0 0 1 0 0 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 0 0 1
Lung cancer 0 0 1 0 0 0 0 0 1
Lynch syndrome 1 0 1 0 0 0 0 0 0 1
Malignant neoplasm of brain 0 0 1 0 0 0 0 0 1
Malignant tumor of pancreas 1 0 0 0 0 0 0 0 1
Mantle cell lymphoma 1 0 0 0 0 0 0 0 1
Multiple myeloma 0 1 0 0 0 0 0 0 1
Ovarian carcinoma 1 0 0 0 0 0 0 0 1
Ovarian neoplasm 1 0 0 0 0 0 0 0 1
Triple-negative breast carcinoma 0 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 169
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely pathogenic, low penetrance risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1307 193 4143 2486 119 0 0 0 8248
Ambry Genetics 794 213 2859 1699 53 0 0 0 5618
Color Diagnostics, LLC DBA Color Health 260 77 1423 966 55 0 0 0 2781
Myriad Genetics, Inc. 763 172 1 557 1214 0 0 0 2707
GeneDx 193 102 948 475 193 0 0 0 1911
Baylor Genetics 178 212 618 1 0 0 0 0 1008
Natera, Inc. 66 8 736 35 33 0 0 0 878
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 106 53 370 191 31 0 0 0 751
Department of Pathology and Laboratory Medicine, Sinai Health System 59 22 273 158 31 0 0 0 543
Sema4, Sema4 24 20 219 114 32 0 0 0 409
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 18 17 107 171 61 0 0 0 374
PreventionGenetics, part of Exact Sciences 27 6 132 126 41 0 0 0 332
Counsyl 25 141 102 36 5 0 0 0 309
Fulgent Genetics, Fulgent Genetics 59 58 162 6 3 0 0 0 288
Quest Diagnostics Nichols Institute San Juan Capistrano 25 7 168 24 32 0 0 0 255
Mendelics 22 4 135 59 27 0 0 0 247
CeGaT Center for Human Genetics Tuebingen 42 18 71 97 12 0 0 0 240
Athena Diagnostics 11 2 92 25 41 0 0 0 171
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 7 3 74 56 31 0 0 0 171
Genetic Services Laboratory, University of Chicago 10 5 71 45 9 0 0 0 140
KCCC/NGS Laboratory, Kuwait Cancer Control Center 5 0 56 17 56 0 0 0 134
Illumina Laboratory Services, Illumina 8 4 87 20 15 0 0 0 133
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 8 0 26 37 45 0 0 0 116
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 2 0 6 48 49 0 0 0 105
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 9 2 19 36 38 0 0 0 104
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 7 1 12 27 50 0 0 0 97
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 3 2 40 30 12 0 0 0 87
Breakthrough Genomics, Breakthrough Genomics 0 2 7 35 39 0 0 0 83
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 4 2 8 34 18 0 0 0 66
Revvity Omics, Revvity 31 8 21 0 0 0 0 0 60
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4 1 10 35 10 0 0 0 59
Eurofins Ntd Llc (ga) 1 0 26 7 21 0 0 0 55
Genome Diagnostics Laboratory, Amsterdam University Medical Center 5 1 4 17 28 0 0 0 55
Laboratory for Genotyping Development, RIKEN 55 0 0 0 0 0 0 0 55
MGZ Medical Genetics Center 9 7 38 0 0 0 0 0 54
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen 35 5 6 1 8 0 0 0 54
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 1 5 26 17 0 0 0 52
Mayo Clinic Laboratories, Mayo Clinic 4 2 44 2 0 0 0 0 52
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 7 0 38 5 1 0 0 0 51
True Health Diagnostics 0 0 7 37 5 0 0 0 49
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 5 2 40 2 0 0 0 0 49
Clinical Genetics, Academic Medical Center 0 0 2 10 36 0 0 0 48
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 9 3 18 7 11 0 0 0 48
ITMI 0 0 0 0 0 0 0 45 45
GeneKor MSA 1 4 36 3 0 0 0 0 44
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 5 2 23 7 3 0 0 0 40
Neuberg Centre For Genomic Medicine, NCGM 2 10 22 0 0 0 0 0 33
Genome-Nilou Lab 1 1 12 3 13 0 0 0 30
Spanish ATM Cancer Susceptibility Variant Interpretation Working Group 9 1 10 5 4 0 0 0 29
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 16 11 1 0 0 0 0 0 28
Institute of Human Genetics, University of Leipzig Medical Center 9 4 9 1 2 0 0 0 25
University of Washington Department of Laboratory Medicine, University of Washington 1 8 0 16 0 0 0 0 25
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 3 2 14 6 0 0 0 0 25
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 25 25
3billion 17 3 3 0 0 0 0 0 23
Cancer Genomics Group, Japanese Foundation For Cancer Research 1 4 16 1 0 0 0 0 22
BRCAlab, Lund University 16 4 0 0 0 0 0 0 20
Clinical Genetics Laboratory, Skane University Hospital Lund 9 5 4 1 0 0 0 0 19
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 3 1 9 5 0 0 0 0 18
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 1 6 0 1 0 0 0 16
Division of Medical Genetics, University of Washington 3 0 13 0 0 0 0 0 16
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 3 8 0 0 0 0 0 15
OMIM 11 0 1 0 0 0 1 0 13
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 13 0 0 0 13
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 7 4 1 0 0 0 0 0 12
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 9 2 1 0 0 0 0 0 12
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 9 3 0 0 0 0 0 0 12
Laboratory of Urology, Hospital Clinic de Barcelona 12 0 0 0 0 0 0 0 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 3 0 0 5 0 0 0 11
GeneReviews 10 0 0 0 0 0 0 1 11
Department of Human Genetics, Hannover Medical School 5 0 6 0 0 0 0 0 11
King Laboratory, University of Washington 7 0 0 0 3 0 0 0 10
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 8 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 2 0 0 0 0 0 9
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 3 5 0 0 0 9
Vantari Genetics 1 0 2 1 5 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 1 1 0 0 0 9
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 8 0 1 0 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 0 0 8 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 2 1 0 0 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 1 0 0 0 0 0 0 7
AiLife Diagnostics, AiLife Diagnostics 2 3 2 0 0 0 0 0 7
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 0 0 0 7 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 1 1 1 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 1 0 0 0 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 2 4 0 0 0 0 0 0 6
Kariminejad - Najmabadi Pathology & Genetics Center 5 1 0 0 0 0 0 0 6
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences 5 1 0 0 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 3 2 0 0 0 0 0 0 5
CZECANCA consortium 5 0 0 0 0 0 0 0 5
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 1 0 2 0 1 1 0 0 5
Institute of Immunology and Genetics Kaiserslautern 1 0 4 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 2 2 0 0 0 0 0 0 4
Blueprint Genetics 1 2 1 0 0 0 0 0 4
Center of Medical Genetics and Primary Health Care 0 0 3 0 1 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 0 0 4
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 4 0 0 0 0 0 4
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 3 1 0 0 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 1 0 0 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 2 1 0 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 2 0 0 0 3
Academic Department of Medical Genetics, University of Cambridge 3 0 0 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 2 0 1 0 0 0 0 0 3
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 1 1 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 2 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 3 0 0 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 1 0 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 1 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 0 2
Dr. Peter K. Rogan Lab, Western University 0 2 0 0 0 0 0 0 2
Manipal Hospitals, Manipal Hospital 0 1 1 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 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 2 0 0 0 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 0 0 2
Genomic Center, National Cancer Institute 2 0 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 1 0 0 0 0 0 0 2
Suma Genomics 0 2 0 0 0 0 0 0 2
DASA 1 1 0 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 0 0 2
NHS Central & South Genomic Laboratory Hub 2 0 0 0 0 0 0 0 2
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 0 0 1
Mayo Clinic Health System - Franciscan Health care, Mayo Clinic Health System 0 0 1 0 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 1 0 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 0 1
Franklin by Genoox 1 0 0 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 0 1 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 0 0 1
Neurology, Jichi Medical University 1 0 0 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 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 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 0 0 1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 1 0 0 0 0 0 0 0 1
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich 1 0 0 0 0 0 0 0 1
Genetica Medica Policlinico Modena, Policlinico di Modena 0 1 0 0 0 0 0 0 1
Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu 0 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 0 0 1
Oncological Genetic Counseling Clinic, "Carlo Poma" Hospital 0 0 1 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 0 0 1
COMBGENE, University of Calgary 1 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 0 0 1
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 0 0 1
Karaiskakio Foundation 1 0 0 0 0 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 0 1
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 1 0 0 0 0 0 0 0 1

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