ClinVar Miner

Variants in gene ATR

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Gene type:

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 not provided total
107 53 2254 1643 143 61 4088

Condition and significance breakdown #

Total conditions: 46
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inborn genetic diseases 2 0 1678 1057 0 0 2737
not provided 100 39 900 902 136 0 2026
Seckel syndrome 1 8 9 231 143 45 4 428
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 1 3 166 147 41 0 352
not specified 0 0 28 65 26 0 112
Seckel syndrome 1; Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 1 4 51 5 0 0 61
ATR-related disorder 0 1 12 37 6 0 56
Hereditary cancer-predisposing syndrome 0 0 4 25 17 0 46
Ovarian serous cystadenocarcinoma 0 0 0 0 0 11 11
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 10 10
Familial cancer of breast 0 0 1 0 0 5 6
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 5 5
Malignant tumor of esophagus 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 5 5
Acute myeloid leukemia 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 4 4
Melanoma 0 0 0 0 0 3 3
Microcephaly 0 0 3 0 0 0 3
Neoplasm 0 1 2 0 0 0 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Papillary renal cell carcinoma type 1 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 3 3
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 2 2
Glioma susceptibility 1 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
ATR-X-related syndrome 0 0 1 0 0 0 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Cornelia de Lange syndrome 1 1 0 0 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Hereditary breast ovarian cancer syndrome 0 1 0 0 0 0 1
Hereditary cancer 0 0 0 1 0 0 1
Lymphoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of breast 0 0 0 1 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Seckel syndrome 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 2 0 1678 1057 0 0 2737
Labcorp Genetics (formerly Invitae), Labcorp 96 24 861 783 67 0 1831
Genome-Nilou Lab 0 1 164 138 39 0 342
GeneDx 0 4 46 109 94 0 253
Illumina Laboratory Services, Illumina 0 0 76 8 27 0 111
CeGaT Center for Human Genetics Tuebingen 5 6 17 59 11 0 98
Genetic Services Laboratory, University of Chicago 1 3 30 33 16 0 83
Breakthrough Genomics, Breakthrough Genomics 0 0 3 38 40 0 81
Fulgent Genetics, Fulgent Genetics 1 3 50 5 0 0 59
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 57 57
PreventionGenetics, part of Exact Sciences 0 1 12 37 6 0 56
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 11 20 0 31
University of Washington Department of Laboratory Medicine, University of Washington 0 0 3 25 0 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 7 3 11 0 25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 7 11 0 22
GeneKor MSA 0 0 0 0 17 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 10 3 0 16
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 10 0 2 0 12
Eurofins Ntd Llc (ga) 0 0 3 0 7 0 10
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 9 0 0 10
Revvity Omics, Revvity 0 2 8 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 1 4 0 7
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 3 3 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 2 3 0 6
Mendelics 0 0 4 1 1 0 6
OMIM 5 0 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 4 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 1 0 4
Center of Medical Genetics and Primary Health Care 0 0 2 1 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 3 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Dasa 0 1 0 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Stewart Lab, University of Birmingham 0 2 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Pediatric Oncology, Johns Hopkins University 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 1

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