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
143 102 891 503 59 2 28 1538

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary cancer-predisposing syndrome 74 22 510 330 27 0 0 919
Microcephaly, normal intelligence and immunodeficiency 101 75 593 60 7 0 1 815
not provided 24 28 177 217 33 0 13 458
not specified 1 0 52 163 44 0 15 239
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 2 1 19 0 0 0 0 22
Acute lymphoid leukemia 0 1 1 0 0 0 0 2
Hereditary breast and ovarian cancer syndrome 0 2 0 0 0 0 0 2
Malignant tumor of prostate 0 0 2 0 0 0 0 2
Aplastic anemia 1 0 0 0 0 0 0 1
Breast-ovarian cancer, familial 1 0 0 0 0 0 1 0 1
Familial cancer of breast 0 0 0 1 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
Ovarian Neoplasms 1 0 0 0 0 0 0 1
Premature ovarian insufficiency 1 0 0 0 0 0 0 1
breast cancer 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 90 35 561 224 28 0 0 938
Ambry Genetics 54 16 358 164 13 0 0 605
Color 37 11 277 209 23 0 0 557
GeneDx 21 23 126 151 34 0 0 355
Counsyl 1 44 51 15 1 0 0 112
Quest Diagnostics Nichols Institute San Juan Capistrano 6 3 50 21 15 0 0 89
Integrated Genetics/Laboratory Corporation of America 3 8 44 23 7 0 0 85
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 15 3 1 0 0 23
Fulgent Genetics,Fulgent Genetics 2 1 18 0 0 0 0 21
Illumina Clinical Services Laboratory,Illumina 0 0 14 2 5 0 0 21
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 19 0 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 4 2 8 0 0 16
ITMI 0 0 0 0 0 0 15 15
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 12 1 0 0 0 14
GeneReviews 12 0 0 0 0 0 1 13
True Health Diagnostics 0 0 3 9 0 0 0 12
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 0 1 0 1 5 0 0 7
Baylor Genetics 2 1 0 0 0 0 0 3
Innovations Lab, Hyderabad,Tata Consultancy Services Ltd 3 0 0 0 0 0 0 3
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
GeneID Lab - Advanced Molecular Diagnostics 0 0 2 0 0 0 0 2
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Department of Molecular Diagnostics,Institute of Oncology 0 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 0 1 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 1 0 0 0 0 0 0 1

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