ClinVar Miner

Variants in gene combination ATM, C11orf65

See also:
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
536 293 2151 918 105 1 24 3658

Condition and significance breakdown #

Total conditions: 36
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Ataxia-telangiectasia syndrome 415 182 1666 460 67 0 1 2665
Hereditary cancer-predisposing syndrome 252 103 1168 608 24 0 0 2085
not provided 95 63 339 135 16 0 4 633
not specified 1 0 83 275 49 0 17 390
Malignant tumor of breast 7 3 32 22 7 0 0 71
Familial cancer of breast 18 13 20 1 1 0 0 50
Familial cancer of breast; Ataxia-telangiectasia syndrome 13 2 23 0 0 0 0 38
Hereditary breast and ovarian cancer syndrome 0 4 12 0 0 0 0 16
none provided 0 1 5 4 6 0 0 16
Carcinoma of colon 1 0 3 3 0 0 0 7
Ataxia-telangiectasia syndrome; Breast cancer, susceptibility to 4 2 0 0 0 0 0 6
Breast and/or ovarian cancer 3 3 0 0 0 0 0 6
Familial ovarian cancer 1 0 5 0 0 0 0 6
Ataxia-telangiectasia variant 5 0 0 0 0 0 0 5
Breast cancer, susceptibility to 3 0 0 0 0 1 0 4
Breast neoplasm 2 0 1 0 0 0 0 3
Carcinoma of pancreas 3 0 0 0 0 0 0 3
Ataxia-telangiectasia without immunodeficiency 2 0 0 0 0 0 0 2
Endometrial carcinoma 0 0 1 1 0 0 0 2
Mantle cell lymphoma 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 syndrome; Hereditary cancer 0 0 0 0 0 0 1 1
Breast cancer, early-onset 0 0 1 0 0 0 0 1
CUP (carcinoma unknown primary) syndrome 0 0 1 0 0 0 0 1
Cerebellar ataxia; Seizures 1 0 0 0 0 0 0 1
Colorectal cancer 1 0 0 0 0 0 0 1
Colorectal polyposis 0 0 1 0 0 0 0 1
Familial pancreatic carcinoma 0 0 1 0 0 0 0 1
Glioblastoma 0 1 0 0 0 0 0 1
Hereditary breast cancer 0 0 1 0 0 0 0 1
Malignant glioma 1 0 0 0 0 0 0 1
Papillary thyroid carcinoma 0 0 1 0 0 0 0 1
Prostate neoplasm 0 0 0 0 0 0 1 1
Thyroid cancer 0 0 1 0 0 0 0 1
Toe walking 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 87
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 401 94 1541 469 30 0 0 2535
Ambry Genetics 207 74 898 328 11 0 0 1518
Color Health, Inc 113 36 602 432 21 0 0 1204
GeneDx 84 55 286 237 37 0 1 700
Integrated Genetics/Laboratory Corporation of America 35 14 101 65 10 0 0 225
Counsyl 17 77 60 15 3 0 0 172
Illumina Clinical Services Laboratory,Illumina 0 1 102 9 21 0 0 133
Mendelics 15 10 68 16 20 0 0 129
Natera, Inc. 13 1 98 5 6 0 0 123
Department of Pathology and Laboratory Medicine,Sinai Health System 10 2 54 29 8 0 0 103
CeGaT Praxis fuer Humangenetik Tuebingen 14 4 31 9 0 0 0 58
Athena Diagnostics Inc 5 2 22 9 9 0 0 47
PreventionGenetics, PreventionGenetics 5 1 10 15 13 0 0 44
Fulgent Genetics,Fulgent Genetics 11 1 23 0 0 0 0 35
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 2 8 7 8 0 0 27
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 17 2 4 0 0 27
GeneKor MSA 5 0 20 0 0 0 0 25
ITMI 0 0 0 0 0 0 17 17
OMIM 16 0 0 0 0 1 0 16
Baylor Genetics 11 0 5 0 0 0 0 16
True Health Diagnostics 0 0 6 9 0 0 0 15
Genetic Services Laboratory, University of Chicago 3 0 4 3 4 0 0 14
University of Washington Department of Laboratory Medicine, University of Washington 1 1 2 10 0 0 0 14
GeneReviews 12 0 0 0 0 0 0 12
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 11 1 0 0 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 4 0 7 0 0 0 0 11
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 6 4 0 0 0 0 0 10
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 4 6 0 0 0 0 0 10
King Laboratory,University of Washington 6 0 0 0 3 0 0 9
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 1 8 0 0 0 0 9
Division of Medical Genetics, University of Washington 1 0 8 0 0 0 0 9
Academic Department of Medical Genetics, University of Cambridge 2 5 0 0 0 0 0 7
CZECANCA consortium 4 3 0 0 0 0 0 7
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 2 4 0 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 3 2 1 0 0 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 4 1 0 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 3 2 0 0 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 2 1 0 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 3 0 0 0 4
Blueprint Genetics 2 0 2 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 1 0 0 0 0 4
MVZ Praenatalmedizin und Genetik Nuernberg 0 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Liquid Biopsy and Precision Medicine Group,Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 2 0 2 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 0 0 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 1 0 0 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 3 0 0 3
Pittsburgh Clinical Genomics Laboratory,University of Pittsburgh Medical Center 0 0 3 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 1 0 0 0 2
CSER _CC_NCGL, University of Washington 1 0 1 0 0 0 0 2
Dr. Peter K. Rogan Lab,Western University 0 2 0 0 0 0 0 2
Center of Medical Genetics and Primary Health Care 0 0 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 0 2
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 1 0 0 0 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 1 0 0 0 0 0 2
NxGen MDx 0 2 0 0 0 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Center for Individualized Medicine,Mayo Clinic 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 0 1
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 0 0 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 0 0 0 1 1
IntelligeneCG 0 0 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Sanfordhealth-Fargo,Sanfordhealth 0 0 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 0 1
Yang An-Suei Laboratory,Academia Sinica 1 0 0 0 0 0 0 1
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital 0 1 0 0 0 0 0 1
Pediatric Genomics Discovery Program,Yale University 0 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 1 0 0 0 0 0 1
Franklin by Genoox 0 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 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 1
Genomic Center,National Cancer Institute 1 0 0 0 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 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.