ClinVar Miner

Variants in gene NBN

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
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
364 339 2036 1237 151 77 3680

Condition and significance breakdown #

Total conditions: 51
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Microcephaly, normal intelligence and immunodeficiency 308 205 1503 921 73 16 2860
Hereditary cancer-predisposing syndrome 150 69 1243 638 30 0 2070
not provided 26 76 399 135 95 16 682
not specified 0 0 163 159 49 15 348
Aplastic anemia 29 115 192 0 0 0 336
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 12 48 56 10 2 1 129
Hereditary breast ovarian cancer syndrome 2 3 16 23 21 0 65
NBN-related disorder 6 5 24 25 0 0 60
Malignant tumor of breast 2 1 23 15 2 0 43
Acute lymphoid leukemia 0 2 1 3 20 0 26
Gastric cancer 13 0 0 0 0 4 17
Hereditary cancer 0 0 0 8 0 0 8
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 8 8
Breast and/or ovarian cancer 6 0 0 0 0 0 6
Hepatocellular carcinoma 0 1 0 0 0 4 5
Breast carcinoma 2 1 1 0 0 0 4
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Ovarian cancer 0 2 0 0 2 0 4
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Breast-ovarian cancer, familial, susceptibility to, 1 1 2 0 0 0 0 3
Diffuse midline glioma, H3 K27-altered 0 0 3 0 0 0 3
Familial cancer of breast 1 0 1 1 0 0 3
Papillary renal cell carcinoma type 1 0 0 0 0 0 3 3
Prostate cancer 0 0 2 1 0 0 3
Colon adenocarcinoma 0 0 0 0 0 2 2
Familial prostate cancer 1 0 0 0 0 1 2
Ovarian carcinoma 2 0 0 0 0 0 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Acute lymphoid leukemia; Hereditary cancer-predisposing syndrome 0 0 0 0 0 1 1
Acute myeloid leukemia 0 0 0 0 0 1 1
Breast-ovarian cancer, familial, susceptibility to, 2 0 0 0 0 1 0 1
Carcinoma of colon 0 0 1 0 0 0 1
Carcinoma of pancreas 1 0 0 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Familial cancer of breast; Microcephaly, normal intelligence and immunodeficiency 0 0 0 0 0 1 1
Familial cancer of breast; Prostate cancer susceptibility; Lymphoma 0 0 0 0 0 1 1
Leukemia, acute lymphoblastic, susceptibility to 1 0 0 0 0 0 1
Leukemia, acute lymphocytic, susceptibility to, 1 0 1 0 0 0 0 1
Lissencephaly; Microcephaly 1 0 0 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 1 0 0 0 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Microcephaly, normal intelligence and immunodeficiency; Breast cancer, susceptibility to 0 0 0 0 0 1 1
Microcephaly, normal intelligence and immunodeficiency; Malignant tumor of breast 0 0 0 0 0 1 1
Monogenic short stature 0 0 1 0 0 0 1
Neoplasm 0 1 0 0 0 0 1
Pediatric high-grade glioma 0 0 1 0 0 0 1
Premature ovarian insufficiency 1 0 0 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
See cases 1 0 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 108
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 298 96 1374 889 49 0 2706
Ambry Genetics 150 62 1186 600 16 0 2014
Genome-Nilou Lab 71 5 555 48 11 0 690
GeneDx 7 67 276 173 102 0 625
Natera, Inc. 8 63 274 13 10 0 368
Baylor Genetics 29 115 193 0 0 0 336
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 18 17 137 60 13 0 245
Quest Diagnostics Nichols Institute San Juan Capistrano 8 8 157 39 15 0 227
Sema4, Sema4 2 10 83 45 9 0 149
Fulgent Genetics, Fulgent Genetics 12 46 50 7 2 0 117
Counsyl 1 43 49 14 1 0 108
PreventionGenetics, part of Exact Sciences 6 6 33 39 16 0 100
Department of Pathology and Laboratory Medicine, Sinai Health System 6 2 50 31 6 0 95
Illumina Laboratory Services, Illumina 0 0 56 7 25 0 88
Mendelics 3 2 31 19 3 0 58
Breakthrough Genomics, Breakthrough Genomics 0 0 5 13 35 0 53
Genetic Services Laboratory, University of Chicago 4 4 28 10 6 0 52
CeGaT Center for Human Genetics Tuebingen 4 1 10 28 5 0 48
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 1 0 23 19 2 0 45
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 0 0 5 16 21 0 42
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 9 12 16 0 40
Revvity Omics, Revvity 13 6 10 1 0 0 30
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 29 29
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 26 0 27
Eurofins Ntd Llc (ga) 0 0 17 4 5 0 26
Mayo Clinic Laboratories, Mayo Clinic 1 0 10 4 9 0 24
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 1 17 3 0 0 23
GeneKor MSA 2 1 8 0 10 0 21
Myriad Genetics, Inc. 0 21 0 0 0 0 21
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 19 0 0 20
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 3 0 12 0 1 0 16
ITMI 0 0 0 0 0 15 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 4 8 0 14
GeneReviews 2 0 0 0 0 11 13
Laboratory for Genotyping Development, RIKEN 13 0 0 0 0 0 13
Harris Lab, University of Minnesota 0 0 0 0 0 12 12
True Health Diagnostics 0 0 3 9 0 0 12
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 11 0 11
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 10 10
OMIM 10 0 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 1 6 0 9
Dasa 2 0 2 3 1 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 2 3 2 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 1 0 6 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 1 5 0 8
CZECANCA consortium 6 1 0 0 0 0 6
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 0 4 2 0 0 6
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 2 2 0 1 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 1 3 1 0 5
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 4 1 0 0 0 0 5
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 0 3 1 0 0 4
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 3 0 0 0 0 4
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 2 0 0 2 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 2 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 1 2 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 0 3
Innovations Lab, Hyderabad, Tata Consultancy Services Ltd 3 0 0 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 2 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 0 2 0 3
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
3billion 1 0 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 0 2 0 0 0 2
Genesis Genomics 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 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 1 0 1 0 0 0 2
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 0 1 1 0 0 2
Vantari Genetics 0 0 0 2 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
ACT Genomics, 0 0 0 1 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Breast Care Center, Daerim St. Mary`s Hospital 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Center of Medical Genetics and Primary Health Care 1 0 0 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Department Of Pathology & Laboratory Medicine, University Of Pennsylvania 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 0 0 0 0 1 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 0 0 1 0 0 0 1
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
Prostate Cancer Research Center, Institute of Biosciences and Medical Technology, University of Tampere 0 0 1 0 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Seelig Lab, University of Washington 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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