ClinVar Miner

Variants in gene NBN

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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
226 137 1258 656 60 2 30 2129

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Microcephaly, normal intelligence and immunodeficiency 174 105 963 303 32 0 2 1518
Hereditary cancer-predisposing syndrome 105 35 726 457 27 0 0 1290
not provided 25 29 190 108 20 1 14 360
not specified 0 0 81 169 47 0 15 272
Malignant tumor of breast 2 1 23 16 3 0 0 45
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 2 1 20 0 0 0 0 23
none provided 1 0 1 3 10 0 0 15
Hereditary breast and ovarian cancer syndrome 0 3 3 1 0 0 0 7
Aplastic anemia 1 0 5 0 0 0 0 6
Breast and/or ovarian cancer 6 0 0 0 0 0 0 6
Acute lymphoid leukemia 0 2 1 0 0 0 0 3
Breast-ovarian cancer, familial 1 1 2 0 0 0 1 0 3
Familial cancer of breast 1 0 1 1 0 0 0 3
Malignant tumor of prostate 0 0 2 1 0 0 0 3
Breast carcinoma 0 0 1 0 0 0 0 1
Carcinoma of colon 0 0 1 0 0 0 0 1
Carcinoma of pancreas 1 0 0 0 0 0 0 1
Familial ovarian cancer 0 0 1 0 0 0 0 1
Leukemia, acute lymphoblastic, susceptibility to 0 0 0 0 0 1 0 1
Lissencephaly; Microcephaly 1 0 0 0 0 0 0 1
Premature ovarian insufficiency 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 164 65 921 311 30 0 0 1491
Ambry Genetics 80 25 529 233 13 0 0 880
Color Health, Inc 56 23 415 309 23 0 0 826
GeneDx 22 24 126 151 34 0 0 357
Integrated Genetics/Laboratory Corporation of America 5 11 75 34 11 0 0 136
Counsyl 1 44 51 15 1 0 0 112
Quest Diagnostics Nichols Institute San Juan Capistrano 7 3 65 18 18 0 0 109
Natera, Inc. 6 4 78 4 9 0 0 101
Department of Pathology and Laboratory Medicine,Sinai Health System 2 2 30 23 7 0 0 64
Illumina Clinical Services Laboratory,Illumina 0 0 35 4 14 0 0 53
PreventionGenetics, PreventionGenetics 1 1 16 16 18 0 0 52
Mendelics 2 3 32 12 1 0 0 50
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 18 4 5 0 0 27
Genetic Services Laboratory, University of Chicago 3 1 12 5 2 0 0 23
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 5 4 11 0 0 22
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 14 6 0 0 0 22
Fulgent Genetics,Fulgent Genetics 2 1 18 0 0 0 0 21
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 19 0 0 0 20
ITMI 0 0 0 0 0 0 15 15
GeneReviews 12 0 0 0 0 0 1 13
True Health Diagnostics 0 0 3 9 0 0 0 12
Baylor Genetics 2 2 7 0 0 0 0 11
Harris Lab, University of Minnesota 0 0 0 0 0 0 11 11
GeneKor MSA 2 1 8 0 0 0 0 11
OMIM 10 0 0 0 0 2 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 1 5 1 0 8
CZECANCA consortium 6 0 0 0 0 0 0 6
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 3 0 0 0 0 0 4
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 0 3 1 0 0 0 4
Innovations Lab, Hyderabad,Tata Consultancy Services Ltd 3 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 0 2
Vantari Genetics 0 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 0 2 0 0 0 0 2
Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf 0 0 2 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 0 1
Miami Human Genetics,University of Miami Miller School of Medicine 1 0 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 0 1
Prostate Cancer Research Center,Institute of Biosciences and Medical Technology, University of Tampere 0 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 1
Center of Medical Genetics and Primary Health Care 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 1 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 0 1 1
ACT Genomics, 0 0 0 1 0 0 0 1
Liquid Biopsy and Precision Medicine Group,Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 0 0 1 0 0 0 0 1
Nilou-Genome Lab 0 0 1 0 0 0 0 1

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