ClinVar Miner

Variants in gene BRIP1

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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 not provided total
265 144 1643 775 85 27 2666

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 151 58 993 534 23 0 1705
Familial cancer of breast; Fanconi anemia, complementation group J 158 53 975 243 28 0 1452
not provided 48 30 289 141 28 1 517
not specified 0 0 61 201 45 26 303
Fanconi anemia, complementation group J 6 12 175 42 30 0 253
Familial cancer of breast 19 13 63 32 1 0 127
Fanconi anemia, complementation group J; Neoplasm of ovary 7 26 68 4 0 0 105
Neoplasm of the breast 1 0 62 29 0 0 92
Neoplasm of ovary 1 8 35 30 11 0 85
Hereditary breast and ovarian cancer syndrome 4 8 17 1 0 0 30
Fanconi anemia 1 0 16 3 0 0 20
Breast cancer, early-onset 4 1 2 0 0 0 6
BRIP1-Related Disorders 1 0 4 0 0 0 5
Ovarian Neoplasms 2 1 0 0 0 0 3
Breast carcinoma 0 0 2 0 0 0 2
Carcinoma of colon 0 1 0 0 0 0 1
Diffuse intrinsic pontine glioma 0 1 0 0 0 0 1
Familial cancer of breast; Fanconi anemia, complementation group J; Tracheoesophageal fistula 1 0 0 0 0 0 1
Hereditary cancer 0 0 1 0 0 0 1
Ovarian Cancers 1 0 0 0 0 0 1
Tumor susceptibility linked to germline BAP1 mutations 0 0 1 0 0 0 1
breast cancer 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 169 54 987 336 28 0 1574
Ambry Genetics 132 46 817 348 10 0 1353
Color 52 13 425 258 18 0 766
GeneDx 45 25 225 184 44 0 523
Counsyl 8 33 103 34 11 0 189
Illumina Clinical Services Laboratory,Illumina 1 0 123 40 24 0 160
Quest Diagnostics Nichols Institute San Juan Capistrano 11 3 76 30 16 0 133
Integrated Genetics/Laboratory Corporation of America 6 11 68 32 13 0 130
Mendelics 4 8 69 30 1 0 112
University of Washington Department of Laboratory Medicine, University of Washington 3 2 2 50 0 0 57
PreventionGenetics,PreventionGenetics 1 2 16 11 15 0 45
ITMI 0 0 0 0 0 26 26
Genetic Services Laboratory, University of Chicago 2 1 10 10 0 0 23
Fulgent Genetics,Fulgent Genetics 5 0 17 0 0 0 22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 7 6 5 0 21
Cancer Genomics Group,Japanese Foundation For Cancer Research 1 2 17 1 0 0 21
GeneKor MSA 3 2 15 0 0 0 20
True Health Diagnostics 0 0 6 11 0 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 6 3 0 0 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 4 0 0 7
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 1 0 0 5 0 0 6
OMIM 4 0 0 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 1 0 3 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 3
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 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 1
Lineagen, Inc 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer 0 1 0 0 0 0 1
Vantari Genetics 0 0 1 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Yang An-Suei Laboratory,Academia Sinica 1 0 0 0 0 0 1
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 1 0 0 0 1
3DMed Clinical Laboratory Inc 0 0 1 0 0 0 1
Department of Molecular Diagnostics,Institute of Oncology 0 1 0 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 1 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 1 0 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1

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