ClinVar Miner

Variants in gene combination ATM, C11orf65

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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
292 208 1331 625 63 1 22 2291

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 171 59 818 433 24 0 0 1461
Ataxia-telangiectasia syndrome 180 128 806 243 24 0 1 1315
not provided 84 57 329 26 8 0 2 493
not specified 2 0 47 236 42 0 17 316
Familial cancer of breast; Ataxia-telangiectasia syndrome 13 1 23 0 0 0 0 37
Familial cancer of breast 2 5 2 1 1 0 0 11
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
Ataxia-telangiectasia, complementation group E 1 0 0 0 0 0 0 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
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: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 168 46 732 223 16 0 0 1185
Ambry Genetics 144 47 619 215 11 0 0 1036
Color 73 19 401 295 21 0 0 809
GeneDx 84 55 286 225 34 0 1 685
Counsyl 17 77 60 15 3 0 0 172
Integrated Genetics/Laboratory Corporation of America 20 5 95 11 6 0 0 137
Mendelics 12 4 52 0 0 0 0 68
Illumina Clinical Services Laboratory,Illumina 0 1 46 10 4 0 0 61
PreventionGenetics 5 1 10 15 13 0 0 44
Fulgent Genetics 11 1 23 0 0 0 0 35
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 17 2 4 0 0 27
GeneKor MSA 5 0 20 0 0 0 0 25
Athena Diagnostics Inc 0 0 9 4 6 0 0 19
ITMI 0 0 0 0 0 0 17 17
OMIM 16 0 0 0 0 1 0 16
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 10 1 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 1 1 3 4 0 0 11
GeneReviews 11 0 0 0 0 0 0 11
Baylor Miraca Genetics Laboratories, 5 0 1 0 0 0 0 6
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
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
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
CSER_CC_NCGL; University of Washington Medical Center 1 0 1 0 0 0 0 2
Dr. Peter K. Rogan Lab,Western University 0 2 0 0 0 0 0 2
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 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
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
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
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

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