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
374 252 1602 769 86 1 24 2831

Condition and significance breakdown #

Total conditions: 22
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary cancer-predisposing syndrome 226 91 1070 514 24 0 0 1874
Ataxia-telangiectasia syndrome 235 149 997 87 32 0 1 1442
not provided 85 59 329 339 27 0 4 798
not specified 1 0 40 249 43 0 17 325
Familial cancer of breast; Ataxia-telangiectasia syndrome 13 2 23 0 0 0 0 38
Familial cancer of breast 2 6 2 1 1 0 0 12
Ataxia-telangiectasia variant 5 0 0 0 0 0 0 5
Hereditary breast and ovarian cancer syndrome 0 4 0 0 0 0 0 4
Breast cancer, susceptibility to 2 0 0 0 0 1 0 3
Neoplasm of the breast 2 0 1 0 0 0 0 3
Ataxia-telangiectasia without immunodeficiency 2 0 0 0 0 0 0 2
Mantle cell lymphoma 2 0 0 0 0 0 0 2
Ovarian Neoplasms 1 1 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
Glioblastoma 0 1 0 0 0 0 0 1
Hereditary breast cancer 0 1 0 0 0 0 0 1
Malignant Glioma 1 0 0 0 0 0 0 1
Prostate neoplasm 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 65
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 219 64 921 354 24 0 0 1582
Ambry Genetics 204 75 907 321 11 0 0 1518
Color 73 19 401 295 21 0 0 809
GeneDx 84 55 286 236 36 0 1 698
Counsyl 17 77 60 15 3 0 0 172
Integrated Genetics/Laboratory Corporation of America 20 5 70 35 7 0 0 137
Mendelics 15 10 68 16 20 0 0 129
Illumina Clinical Services Laboratory,Illumina 0 1 46 10 4 0 0 61
PreventionGenetics,PreventionGenetics 5 1 10 15 13 0 0 44
Fulgent Genetics,Fulgent Genetics 11 1 23 0 0 0 0 35
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 26 4 0 0 0 33
Athena Diagnostics Inc 2 1 14 6 9 0 0 32
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 2 3 3 5 0 0 15
True Health Diagnostics 0 0 6 9 0 0 0 15
Genetic Services Laboratory, University of Chicago 3 0 4 6 1 0 0 14
University of Washington Department of Laboratory Medicine, University of Washington 1 1 2 10 0 0 0 14
GeneReviews 11 0 0 0 0 0 0 11
Baylor Genetics 9 0 1 0 0 0 0 10
Academic Department of Medical Genetics, University of Cambridge 2 5 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
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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 2 2 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 1 0 0 0 3
MVZ Praenatalmedizin und Genetik Nuernberg 0 2 1 0 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
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 for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 0 2
Department of Molecular Diagnostics,Institute of Oncology 0 2 0 0 0 0 0 2
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 1 0 0 0 0 0 2
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 1 0 0 0 0 0 2
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 1 1 0 0 0 0 0 2
Center for Human Genetics, Inc 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 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 1 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
Center of Medical Genetics and Primary Health Care 0 1 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
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 1 0 0 0 0 0 1
Research and Development,Genoox 0 0 1 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.