ClinVar Miner

Variants studied for Familial cancer of breast

Coded as:
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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 association established risk allele pathogenic, low penetrance risk factor not provided total
4912 1910 8692 4646 4595 3 1 2 2 486 22706

Gene and significance breakdown #

Total genes and gene combinations: 88
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele pathogenic, low penetrance risk factor not provided total
PALB2 1107 278 2512 1383 811 0 0 0 0 1 5157
CHEK2 709 314 1759 841 358 0 1 2 0 1 3568
ATM 845 380 754 603 1225 0 0 0 0 1 3556
BARD1 441 203 1856 978 624 0 0 0 0 10 3499
ATM, C11orf65 498 292 434 389 648 0 0 0 0 0 2113
BRIP1 431 174 486 284 722 0 0 0 0 0 1983
BRCA2 655 174 475 93 124 0 0 0 1 185 1668
BRCA1 109 8 40 30 47 0 0 0 0 232 459
CDH1 29 19 235 1 3 0 0 0 0 0 287
BRCA1, LOC126862571 17 0 10 6 4 0 0 0 0 40 76
RAD50 1 1 18 3 13 0 0 0 0 0 36
MT-CYB 0 32 3 7 5 0 0 0 0 0 32
TP53 18 4 4 2 0 0 0 0 0 2 30
MSH6 7 3 5 7 2 0 0 0 0 0 24
MLH1 4 7 3 6 0 0 0 0 0 0 20
MSH2 7 6 3 4 0 0 0 0 0 0 20
PRC1 0 0 19 0 0 0 0 0 0 0 19
ABCC1 0 0 9 0 0 3 0 0 0 0 12
RAD54L 0 1 9 0 0 0 0 0 0 0 10
PPM1D 4 1 2 1 1 0 0 0 0 0 9
BARD1, LOC129935544 0 0 2 2 4 0 0 0 0 0 8
HMMR 0 0 6 0 1 0 0 0 0 0 7
BARD1, LOC129935540, LOC129935541 3 0 3 0 0 0 0 0 0 0 6
ERBB2 0 0 0 0 0 0 0 0 0 5 5
MUTYH 0 1 3 1 0 0 0 0 0 0 5
PIK3CA 0 1 0 0 0 0 0 0 0 4 5
RAD51 2 1 2 0 0 0 0 0 0 0 5
BARD1, LOC129935542, LOC129935543 2 0 2 0 0 0 0 0 0 0 4
PTEN 1 1 1 0 1 0 0 0 0 0 4
RAD50, TH2-LCR, TH2LCRR 0 0 3 1 0 0 0 0 0 0 4
AKT1 0 1 2 0 0 0 0 0 0 0 3
BARD1, LOC129935540, LOC129935541, LOC129935542, LOC129935543 1 0 2 0 0 0 0 0 0 0 3
NBN 1 0 1 1 0 0 0 0 0 0 3
RAD51C 0 0 2 1 0 0 0 0 0 0 3
ABCA12, ATIC, BARD1 0 0 2 0 0 0 0 0 0 0 2
APC 1 0 1 0 0 0 0 0 0 0 2
CHEK2, HSCB 2 0 0 0 0 0 0 0 0 0 2
CHEK2, LOC130067165 1 0 1 0 0 0 0 0 0 0 2
DCTN5, PALB2 1 1 0 0 1 0 0 0 0 0 2
EPCAM 0 2 0 0 0 0 0 0 0 0 2
FANCM 2 0 0 0 0 0 0 0 0 0 2
GATA3 0 0 0 0 0 0 0 0 0 2 2
PMS2 0 1 1 0 0 0 0 0 0 0 2
RAD50, TH2LCRR 0 0 1 0 1 0 0 0 0 0 2
RAD51D, RAD51L3-RFFL 2 0 0 0 0 0 0 0 0 0 2
ZNF462 1 1 0 0 0 0 0 0 0 0 2
ABCA12, BARD1 0 0 1 0 0 0 0 0 0 0 1
ANKRD30A 0 0 1 0 0 0 0 0 0 0 1
AP1B1, ASCC2, C22orf31, CABP7, CCDC117, CHEK2, EMID1, EWSR1, GAS2L1, HSCB, KREMEN1, MTMR3, NEFH, NF2, NIPSNAP1, RASL10A, RFPL1, RFPL1S, RHBDD3, THOC5, UQCR10, XBP1, ZMAT5, ZNRF3 1 0 0 0 0 0 0 0 0 0 1
AP1B1, C22orf31, CCDC117, CHEK2, EMID1, EWSR1, GAS2L1, HSCB, KREMEN1, NEFH, NF2, NIPSNAP1, RASL10A, RFPL1, RFPL1S, RHBDD3, THOC5, XBP1, ZNRF3 1 0 0 0 0 0 0 0 0 0 1
ATR 0 0 1 0 0 0 0 0 0 0 1
BRCA1, LOC110485084, LOC111589215, LOC111589216 1 0 0 0 0 0 0 0 0 0 1
BRCA1, LOC111589215 1 0 0 0 0 0 0 0 0 0 1
BRCA2, LOC106721785 0 0 1 0 0 0 0 0 0 0 1
BRIP1, LOC110120932 0 0 1 0 0 0 0 0 0 0 1
C22orf31, CCDC117, CHEK2, EMID1, HSCB, KREMEN1, XBP1, ZNRF3 1 0 0 0 0 0 0 0 0 0 1
CDC73 1 0 0 0 0 0 0 0 0 0 1
DCTN5, PALB2, PLK1 1 0 0 0 0 0 0 0 0 0 1
EGFR 0 0 0 0 0 0 0 0 0 1 1
EPCAM, MSH2 1 0 0 0 0 0 0 0 0 0 1
ESR1 0 0 0 0 0 0 0 0 1 0 1
FHIT 0 0 1 0 0 0 0 0 0 0 1
KLC1, XRCC3 0 0 1 0 0 0 0 0 0 0 1
KRAS 0 0 0 0 0 0 0 0 0 1 1
LHFPL3 0 0 1 0 0 0 0 0 0 0 1
LOC126860224, NOS3 0 0 1 0 0 0 0 0 0 0 1
LOC126862223, PRC1 0 0 1 0 0 0 0 0 0 0 1
LOC129390903, RAD51C 0 0 1 0 0 0 0 0 0 0 1
LOC129933707, MSH6 0 0 0 1 0 0 0 0 0 0 1
LRRC41, RAD54L 0 0 1 0 0 0 0 0 0 0 1
MLH3 0 0 1 0 0 0 0 0 0 0 1
MT-TE 0 1 1 0 0 0 0 0 0 0 1
MT-TT 0 1 0 0 0 0 0 0 0 0 1
MUTYH, TOE1 0 0 0 1 0 0 0 0 0 0 1
NCOR1 0 0 1 0 0 0 0 0 0 0 1
NDUFAB1, PALB2 1 0 0 0 0 0 0 0 0 0 1
NDUFAB1, PALB2, UBFD1 1 0 0 0 0 0 0 0 0 0 1
NOBOX 0 0 1 0 0 0 0 0 0 0 1
P3R3URF-PIK3R3, PIK3R3 0 0 1 0 0 0 0 0 0 0 1
PTCH2 0 1 0 0 0 0 0 0 0 0 1
RAD51B 0 0 1 0 0 0 0 0 0 0 1
RB1CC1 0 1 0 0 0 0 0 0 0 0 1
RECQL 0 0 0 0 0 0 0 0 0 1 1
RET 1 0 0 0 0 0 0 0 0 0 1
SDHA 1 0 0 0 0 0 0 0 0 0 1
SLX4 0 0 1 0 0 0 0 0 0 0 1
TET2 0 0 1 0 0 0 0 0 0 0 1
TSG101 0 0 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 121
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele pathogenic, low penetrance risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1677 340 5888 2684 128 0 0 2 0 2 10720
Myriad Genetics, Inc. 2911 679 241 1842 4290 0 0 0 0 0 9963
Baylor Genetics 1130 847 2692 2 97 0 0 0 0 0 4768
KCCC/NGS Laboratory, Kuwait Cancer Control Center 27 10 172 40 228 0 0 0 0 0 477
Counsyl 37 75 244 95 13 0 0 0 0 0 464
Department of Pathology and Laboratory Medicine, Sinai Health System 55 23 250 131 5 0 0 0 0 0 464
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 0 1 444 445
Mendelics 81 38 174 93 15 0 0 0 0 0 401
MGZ Medical Genetics Center 41 33 139 92 8 0 0 0 0 0 313
Leiden Open Variation Database 72 7 66 91 17 0 0 0 0 0 253
Institute of Human Genetics, University of Leipzig Medical Center 106 29 71 11 5 0 0 0 0 0 222
Center for Precision Medicine, Meizhou People's Hospital 58 8 85 25 0 0 0 0 0 0 176
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre 0 19 42 35 0 0 0 0 0 0 96
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 5 84 0 0 0 0 0 0 0 95
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen 40 12 23 5 14 0 0 0 0 0 93
Genetics and Molecular Pathology, SA Pathology 31 12 31 6 4 0 0 0 0 0 84
Centre for Mendelian Genomics, University Medical Centre Ljubljana 34 9 26 3 4 0 0 0 0 0 76
Fulgent Genetics, Fulgent Genetics 8 2 54 3 3 0 0 0 0 0 70
Neuberg Centre For Genomic Medicine, NCGM 4 5 57 0 0 0 0 0 0 0 66
BRCAlab, Lund University 50 12 0 0 0 0 0 0 0 0 62
GeneKor MSA 57 3 1 0 0 0 0 0 0 0 61
Illumina Laboratory Services, Illumina 0 0 33 9 13 0 0 0 0 0 55
Division of Medical Genetics, University of Washington 10 1 38 0 0 0 0 0 0 0 49
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 11 4 32 0 0 0 1 0 0 0 48
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 27 8 6 2 0 0 0 0 0 0 43
GeneDx 30 0 4 0 8 0 0 0 0 0 42
Department of Zoology Govt. MVM College 0 34 0 0 0 0 0 0 0 0 34
Research Lab, National Institute of Public Health 0 0 29 0 0 3 0 0 0 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 20 0 0 0 0 0 0 0 0 31
Center of Medical Genetics and Primary Health Care 15 5 9 0 0 0 0 0 1 0 30
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 22 6 0 0 0 0 0 0 0 0 28
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 5 1 5 0 0 0 0 11 26
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 10 11 2 0 1 0 0 0 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 4 4 14 0 0 0 0 0 23
King Laboratory, University of Washington 20 0 0 0 0 0 0 0 0 0 20
Department of Human Genetics, Hannover Medical School 7 0 12 0 0 0 0 0 0 0 19
Genomic Center, National Cancer Institute 16 0 0 0 0 0 0 0 0 0 16
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 0 4 7 5 0 0 0 0 0 16
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 0 0 0 15 15
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 12 0 0 0 0 0 0 0 14
Pathway Genomics 3 1 2 0 7 0 0 0 0 0 13
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 10 2 1 0 0 0 0 0 0 0 13
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 6 0 7 0 0 0 0 0 0 0 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 10 2 0 0 0 0 0 0 0 0 12
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo 7 1 0 2 0 0 0 0 0 0 10
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 10 10
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 2 4 1 0 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 1 0 0 0 0 0 0 0 9
MVZ Praenatalmedizin und Genetik Nuernberg 2 4 2 1 0 0 0 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 4 5 0 0 0 0 0 0 0 0 9
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 7 1 0 0 0 0 0 9
deCODE genetics, Amgen 2 7 0 0 0 0 0 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 5 0 0 0 0 0 0 0 0 8
Faculty of Pharmacy, Medical University of Gdansk 0 0 8 0 0 0 0 0 0 0 8
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 7 1 0 0 0 0 0 0 0 0 8
University Health Network, Princess Margaret Cancer Centre 6 1 0 0 0 0 0 0 0 0 7
Institute of Human Genetics, University of Goettingen 0 2 4 0 0 0 0 0 0 0 6
Faculty of Pharmacy, Ain Shams University 6 0 0 0 0 0 0 0 0 0 6
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 5 0 1 0 0 0 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 5 0 0 0 0 0 0 0 5
Research and Experiment Center, Meizhou People's Hospital 5 0 0 0 0 0 0 0 0 0 5
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 5 0 0 0 0 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 1 0 0 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 4 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 2 1 1 0 0 0 0 0 0 0 4
Department of Medical Laboratory Science, Faculty of Allied Health Sciences, University of Peradeniya 4 0 0 0 0 0 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 0 1 0 0 0 0 0 0 0 4
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 2 2 0 0 0 0 0 0 0 0 4
Biotechnology, Institute of Science, Nirma University 1 0 3 0 0 0 0 0 0 0 4
OMIM 2 0 1 0 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 1 0 0 0 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 2 1 0 0 0 0 0 0 0 0 3
Cancer Genetics Service, National Cancer Centre Singapore 1 1 1 0 0 0 0 0 0 0 3
New York Genome Center 2 1 0 0 0 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 0 0 0 0 0 0 0 0 3
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 2 1 0 0 0 0 0 0 0 0 3
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 1 2 0 0 0 0 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 3 0 0 0 0 0 0 0 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 1 0 0 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 0 0 0 0 2
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center 0 2 0 0 0 0 0 0 0 0 2
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 2 0 0 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 1 0 0 0 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 2 0 0 0 0 0 0 0 2
Human Genetics Unit, University Of Colombo 0 2 0 0 0 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 0 0 0 2
Academic Center for Education, Culture and Research, Motamed Cancer Institute 2 0 0 0 0 0 0 0 0 0 2
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 1 1 0 0 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 0 0 0 0 2
Department of Medical Genetics, Istanbul Demiroglu Bilim University Medical School 2 0 0 0 0 0 0 0 0 0 2
Eurofins-Biomnis 1 1 0 0 0 0 0 0 0 0 2
Arcensus 0 2 0 0 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 2 0 0 0 0 0 0 0 0 0 2
The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University 1 1 0 0 0 0 0 0 0 0 2
Centro Diagnostico Italiano 0 0 1 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 0 0 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 1 0 0 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 0 0 0 1
Sanfordhealth-Fargo, Sanfordhealth 0 0 1 0 0 0 0 0 0 0 1
North East Yorkshire Genomic Laboratory Hub 0 1 0 0 0 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 0 0 0 0 1
Division of Human Genetics, University Cheikh Anta Diop 0 1 0 0 0 0 0 0 0 0 1
3billion 1 0 0 0 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Barretos Cancer Hospital 0 0 0 1 0 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 0 0 0 0 1
Kong lab, Department of Laboratory Medicine, National Cancer Center 1 0 0 0 0 0 0 0 0 0 1
Research Unit of Translational Medicine, University of Oulu 0 0 0 1 0 0 0 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 0 0 0 1

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