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
546 317 2392 1365 149 1 48 4321

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary cancer-predisposing syndrome 289 76 1368 877 75 0 0 2561
Ataxia-telangiectasia syndrome 385 204 1668 195 48 0 0 2396
not provided 137 93 551 595 72 0 3 1367
not specified 2 1 113 404 98 0 45 595
Familial cancer of breast; Ataxia-telangiectasia syndrome 15 1 53 0 0 0 0 69
Familial cancer of breast 5 1 0 0 0 0 0 6
Ovarian Neoplasms 3 0 0 0 0 0 0 3
Hereditary breast and ovarian cancer syndrome 0 2 0 0 0 0 0 2
Inborn genetic diseases 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
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

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 345 63 1564 636 66 0 0 2674
Ambry Genetics 248 42 1001 453 44 0 0 1788
Color 107 39 699 582 59 0 0 1486
GeneDx 135 80 480 389 83 0 0 1167
Counsyl 25 141 103 36 5 0 0 310
Integrated Genetics/Laboratory Corporation of America 27 11 151 51 15 0 0 255
Mendelics 17 3 126 40 19 0 0 205
PreventionGenetics,PreventionGenetics 2 2 37 32 40 0 0 113
CeGaT Praxis fuer Humangenetik Tuebingen 0 7 51 12 0 0 0 70
Fulgent Genetics,Fulgent Genetics 15 1 50 0 0 0 0 66
Athena Diagnostics Inc 5 1 19 6 30 0 0 61
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 26 7 21 0 0 55
Illumina Clinical Services Laboratory,Illumina 1 1 34 16 2 0 0 54
True Health Diagnostics 0 0 7 37 5 0 0 49
Genetic Services Laboratory, University of Chicago 3 0 21 19 2 0 0 45
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 0 7 10 23 0 0 45
ITMI 0 0 0 0 0 0 45 45
GeneKor MSA 1 4 36 3 0 0 0 44
GeneReviews 31 0 0 0 0 0 0 31
University of Washington Department of Laboratory Medicine, University of Washington 1 7 0 17 0 0 0 25
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
OMIM 12 0 1 0 0 1 0 14
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 11 2 0 0 14
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
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
Institute of Human Genetics,Klinikum rechts der Isar 4 1 0 0 0 0 0 5
Baylor Genetics 3 1 0 0 0 0 0 4
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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 3 1 0 0 0 0 0 4
Division of Genomic Diagnostics,The 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 0 3
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 3 0 0 0 0 0 0 3
Center for Human Genetics, Inc 1 1 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
GenomeConnect, ClinGen 0 0 0 0 0 0 2 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
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Research and Development,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
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 0 1

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