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
489 301 2196 1200 129 1 48 3885

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary cancer-predisposing syndrome 288 76 1368 877 75 0 0 2560
Ataxia-telangiectasia syndrome 310 188 1355 455 62 0 0 2253
not provided 135 91 562 46 29 0 3 834
not specified 2 1 117 383 99 0 45 581
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; Immunodeficiency; Conjunctival telangiectasia; Oculomotor apraxia 1 0 0 0 0 0 0 1
Mantle cell lymphoma 1 0 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: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 275 47 1278 410 55 0 0 2065
Ambry Genetics 248 42 1001 453 44 0 0 1788
Color 107 39 699 582 59 0 0 1486
GeneDx 134 80 481 356 78 0 0 1129
Counsyl 25 141 103 36 5 0 0 310
Integrated Genetics/Laboratory Corporation of America 27 11 184 19 14 0 0 255
PreventionGenetics 2 2 37 32 40 0 0 113
Mendelics 14 1 74 6 1 0 0 96
Fulgent Genetics 15 1 50 0 0 0 0 66
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
ITMI 0 0 0 0 0 0 45 45
GeneKor MSA 1 4 36 3 0 0 0 44
Athena Diagnostics Inc 3 1 9 8 17 0 0 38
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 0 6 9 17 0 0 35
GeneReviews 31 0 0 0 0 0 0 31
CeGaT Praxis fuer Humangenetik Tuebingen 0 5 25 1 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
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
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
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 0 2
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
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
Ege University Pediatric Genetics,Ege University 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

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