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
189 118 1241 612 59 27 2024

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 110 40 781 439 23 0 1341
Familial cancer of breast; Fanconi anemia, complementation group J 96 31 665 208 20 0 1020
not provided 48 31 285 29 22 1 402
not specified 0 0 68 189 45 26 294
Fanconi anemia, complementation group J 6 12 82 30 11 0 139
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
Fanconi anemia 1 0 60 29 0 0 90
Neoplasm of ovary 1 8 35 30 11 0 85
Familial cancer of breast 18 9 20 10 0 0 57
Hereditary breast and ovarian cancer syndrome 3 5 0 0 0 0 8
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
Tumor susceptibility linked to germline BAP1 mutations 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 110 35 684 216 20 0 1065
Ambry Genetics 88 28 553 233 10 0 912
Color 52 13 425 258 18 0 766
GeneDx 45 27 223 170 39 0 504
Counsyl 8 33 103 34 11 0 189
Integrated Genetics/Laboratory Corporation of America 6 10 89 12 13 0 130
Illumina Clinical Services Laboratory,Illumina 1 0 65 30 0 0 95
Quest Diagnostics Nichols Institute San Juan Capistrano 7 2 54 23 11 0 94
Mendelics 3 5 57 0 0 0 65
University of Washington Department of Laboratory Medicine,University of Washington 3 2 2 50 0 0 57
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 5 0 17 0 0 0 22
GeneKor MSA 3 2 15 0 0 0 20
True Health Diagnostics 0 0 6 11 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 4 5 4 0 15
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 0 0 3 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 0 3
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
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
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
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 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
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1

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