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
2012 337 3111 1448 399 3 6990

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRCA2 1097 164 2046 902 244 3 4247
BRCA1 868 130 990 542 154 0 2573
RAD51D, RAD51L3-RFFL 4 3 34 1 0 0 42
RAD51C 7 7 16 0 0 0 30
BRCA1, LOC110485084, LOC111589216 12 0 5 0 0 0 17
PALB2 7 9 1 0 0 0 17
BRCA1, LOC111589215 1 0 7 1 0 0 9
BRCA2, LOC106721785 1 0 5 2 1 0 9
BRIP1 3 5 0 0 0 0 8
BRCA1, LOC110485084, LOC111589215, LOC111589216 5 0 2 0 0 0 7
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
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
BRCA2, LOC112163653 0 0 1 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

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1187 103 2853 1291 378 0 5812
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 913 9 0 0 0 0 922
Integrated Genetics/Laboratory Corporation of America 478 167 24 9 96 0 774
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 106 3 0 0 0 0 109
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
GeneKor MSA 22 2 0 0 0 0 24
CSER_CC_NCGL; University of Washington Medical Center 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
Curoverse 6 0 0 0 0 0 6
Biesecker Lab/Human Development 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
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
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital 1 2 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
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
Service de Génétique Médicale,Institut Central des Hôpitaux 0 0 1 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

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