ClinVar Miner

Variants studied for Hereditary breast and ovarian cancer syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
2222 369 3750 472 133 3 6746

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRCA2 1227 173 2474 310 92 3 4153
BRCA1 938 151 1191 158 40 0 2401
RAD51D, RAD51L3-RFFL 4 3 34 1 0 0 42
RAD51C 7 7 16 0 0 0 30
PALB2 8 10 1 0 0 0 19
BRCA1, LOC110485084, LOC111589215, LOC111589216 9 0 8 0 0 0 17
BRCA1, LOC110485084, LOC111589216 12 0 5 0 0 0 17
BRCA2, LOC106721785 4 0 8 2 1 0 15
BRCA1, LOC111589215 1 0 8 1 0 0 10
BRIP1 3 6 0 0 0 0 9
BARD1 3 3 0 0 0 0 6
CHEK2 2 3 0 0 0 0 5
ATM, C11orf65 0 4 0 0 0 0 4
BRCA2, LOC112163653 3 0 1 0 0 0 4
ATM 0 2 0 0 0 0 2
NBN 0 2 0 0 0 0 2
PMS1 0 0 2 0 0 0 2
TP53 1 1 0 0 0 0 2
ABRAXAS1 0 1 0 0 0 0 1
ARL4D, BRCA1, DHX8, ETV4, NBR1, NBR2, TMEM106A 0 0 1 0 0 0 1
BRCA2, LOC106721785, LOC112163653 1 0 0 0 0 0 1
CDH1 0 0 1 0 0 0 1
MLH1 0 1 0 0 0 0 1
MRE11 0 1 0 0 0 0 1
RAD51B 0 1 0 0 0 0 1
XRCC2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1405 126 3499 311 11 0 5351
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 913 9 0 0 0 0 922
Integrated Genetics/Laboratory Corporation of America 485 164 20 6 96 0 771
Mendelics 115 25 224 15 2 0 381
Department of Pathology and Laboratory Medicine,Sinai Health System 283 31 17 0 0 0 331
Illumina Clinical Services Laboratory,Illumina 2 0 53 119 19 0 192
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 125 9 0 0 0 0 134
Department of Pathology and Molecular Medicine,Queen's University 59 2 0 0 0 0 61
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 24 0 28 0 0 0 52
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 16 13 10 0 39
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 3 0 4 28 0 0 35
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology 9 6 5 0 14 0 34
GeneKor MSA 22 2 0 0 0 0 24
CSER _CC_NCGL, University of Washington 1 3 8 3 2 0 17
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 9 0 4 1 0 0 14
Dr. Peter K. Rogan Lab,Western University 0 8 1 0 0 0 9
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 7 1 0 1 0 0 9
University of Washington Department of Laboratory Medicine, University of Washington 1 1 0 4 2 0 8
Center of Medical Genetics and Primary Health Care 6 1 0 0 0 0 7
Curoverse 6 0 0 0 0 0 6
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 3 0 0 0 5
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital 2 2 1 0 0 0 5
Lab of Molecular Oncology,Sapienza University of Rome 5 0 0 0 0 0 5
Veritas Genetics,Veritas Genetics 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Service de Génétique Médicale,Institut Central des Hôpitaux 0 0 2 0 0 0 2
Center for Breast Cancer,National Cancer Center 1 0 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 1 0 0 0 0 1
International Hereditary Cancer Center PUM,Pomeranian Medical University 0 0 1 0 0 0 1
Centro de Estudios en Salud,Universidad de Narino 0 1 0 0 0 0 1

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