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 risk factor not provided total
930 412 3519 1739 159 1 50 6133

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Ataxia-telangiectasia syndrome 736 275 2681 856 97 0 0 4413
Hereditary cancer-predisposing syndrome 423 112 1958 1193 75 0 0 3608
not provided 144 102 559 273 42 0 5 1081
not specified 2 1 207 435 110 0 45 706
Malignant tumor of breast 9 9 68 43 17 0 0 145
Familial cancer of breast; Ataxia-telangiectasia syndrome 15 1 55 0 0 0 0 71
Familial cancer of breast 26 3 29 1 3 0 0 62
none provided 0 0 10 6 33 0 0 49
Hereditary breast and ovarian cancer syndrome 2 7 25 1 0 0 0 35
Carcinoma of colon 1 1 2 4 2 0 0 10
Ataxia-telangiectasia syndrome; Breast cancer, susceptibility to 6 1 1 0 0 0 0 8
Familial ovarian cancer 1 0 4 1 1 0 0 7
Familial pancreatic carcinoma 3 0 4 0 0 0 0 7
Breast and/or ovarian cancer 2 0 0 0 0 0 0 2
Colorectal cancer 2 0 0 0 0 0 0 2
Endometrial carcinoma 0 0 2 0 0 0 0 2
Inborn genetic diseases 0 0 2 0 0 0 0 2
Microcephaly 0 0 2 0 0 0 0 2
Neoplasm 2 0 0 0 0 0 0 2
T-cell prolymphocytic leukemia 2 0 0 0 0 0 0 2
Ataxia telangiectasi 1 0 0 0 0 0 0 1
Ataxia-telangiectasia variant 1 0 0 0 0 0 0 1
B-cell non-Hodgkin lymphoma 1 0 0 0 0 0 0 1
Bilateral breast carcinoma 0 0 1 0 0 0 0 1
Bile duct cancer 0 0 0 0 1 0 0 1
Breast cancer, susceptibility to 0 0 0 0 0 1 0 1
Breast carcinoma 0 0 1 0 0 0 0 1
Cerebellar ataxia 1 0 0 0 0 0 0 1
Cerebellar ataxia; Immunodeficiency; Conjunctival telangiectasia; Oculomotor apraxia 1 0 0 0 0 0 0 1
Mantle cell lymphoma 1 0 0 0 0 0 0 1
Multiple myeloma 0 1 0 0 0 0 0 1
Renal cell carcinoma, papillary, 1 1 0 0 0 0 0 0 1
Seizures 1 0 0 0 0 0 0 1
Toe walking 0 0 1 0 0 0 0 1
Triple-negative breast carcinoma 0 0 0 0 1 0 0 1
brain cancer 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 702 130 2514 878 76 0 0 4300
Ambry Genetics 361 62 1426 666 45 0 0 2560
Color Health, Inc 171 58 1077 790 59 0 0 2155
GeneDx 136 81 480 389 82 0 0 1168
Integrated Genetics/Laboratory Corporation of America 51 25 231 91 23 0 0 421
Counsyl 25 141 103 36 5 0 0 310
Natera, Inc. 47 2 203 13 24 0 0 289
Department of Pathology and Laboratory Medicine,Sinai Health System 14 5 108 67 27 0 0 221
Mendelics 17 3 126 40 19 0 0 205
Illumina Clinical Services Laboratory,Illumina 1 1 93 20 16 0 0 131
PreventionGenetics, PreventionGenetics 2 2 37 32 40 0 0 113
CeGaT Praxis fuer Humangenetik Tuebingen 13 12 51 25 0 0 0 101
Athena Diagnostics Inc 5 1 30 9 35 0 0 80
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 0 16 13 35 0 0 69
Fulgent Genetics,Fulgent Genetics 15 1 50 0 0 0 0 66
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 26 7 21 0 0 55
True Health Diagnostics 0 0 7 37 5 0 0 49
Genetic Services Laboratory, University of Chicago 3 0 19 19 4 0 0 45
ITMI 0 0 0 0 0 0 45 45
GeneKor MSA 1 4 36 3 0 0 0 44
Baylor Genetics 7 2 22 0 0 0 0 31
GeneReviews 29 0 0 0 0 0 0 29
University of Washington Department of Laboratory Medicine, University of Washington 1 7 0 17 0 0 0 25
Cancer Genomics Group,Japanese Foundation For Cancer Research 1 4 16 1 0 0 0 22
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 12 7 0 0 0 0 0 19
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 8 10 0 0 19
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 4 14 0 0 0 18
Institute of Human Genetics, University of Leipzig Medical Center 3 1 9 1 2 0 0 16
Division of Medical Genetics, University of Washington 3 0 13 0 0 0 0 16
OMIM 12 0 1 0 0 1 0 14
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 11 2 0 0 14
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 9 2 1 0 0 0 0 12
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 5 3 3 0 0 11
King Laboratory,University of Washington 7 0 0 0 3 0 0 10
Pittsburgh Clinical Genomics Laboratory,University of Pittsburgh Medical Center 1 1 8 0 0 0 0 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 3 5 0 0 9
Vantari Genetics 1 0 2 1 5 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 6 0 1 0 0 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 2 7 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 4 2 0 0 8
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 8 0 0 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 0 7
Institute of Human Genetics, Klinikum rechts der Isar 4 1 0 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 4 0 0 4
Blueprint Genetics 1 2 1 0 0 0 0 4
Center of Medical Genetics and Primary Health Care 0 0 3 0 1 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 2 0 0 3
Academic Department of Medical Genetics, University of Cambridge 3 0 0 0 0 0 0 3
Institute of Human Genetics,University of Wuerzburg 2 0 1 0 0 0 0 3
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 1 1 0 0 0 0 3
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 1 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 0 2
Dr. Peter K. Rogan Lab,Western University 0 2 0 0 0 0 0 2
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 0 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 0 2
CZECANCA consortium 2 0 0 0 0 0 0 2
Liquid Biopsy and Precision Medicine Group,Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 2 0 0 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 0 2
Genomic Center,National Cancer Institute 2 0 0 0 0 0 0 2
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 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 1
Center for Individualized Medicine,Mayo Clinic 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 1
Pediatric Genomics Discovery Program,Yale University 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Franklin by Genoox 1 0 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 1 1
Neurology,Jichi Medical University 1 0 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 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
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 1 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 1 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 0 1 0 0 0 0 1
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 0 1 0 0 0 0 1
Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf 1 0 0 0 0 0 0 1

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