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 pathogenic, low penetrance risk factor not provided total
4735 1849 8217 4149 3494 3 2 2 486 21324

Gene and significance breakdown #

Total genes and gene combinations: 82
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association pathogenic, low penetrance risk factor not provided total
PALB2 1067 275 2364 1184 123 0 0 0 1 4642
ATM 826 373 696 582 1217 0 0 0 1 3482
BARD1 416 192 1750 909 621 0 0 0 10 3314
CHEK2 670 302 1671 695 33 0 2 0 1 3204
ATM, C11orf65 478 287 405 370 635 0 0 0 0 2053
BRIP1 421 170 458 265 719 0 0 0 0 1943
BRCA2 651 174 474 89 66 0 0 1 185 1603
BRCA1 106 8 40 30 47 0 0 0 232 456
CDH1 29 19 235 1 3 0 0 0 0 287
BRCA1, LOC126862571 17 0 10 6 4 0 0 0 40 76
RAD50 1 1 17 3 13 0 0 0 0 35
MT-CYB 0 32 3 7 5 0 0 0 0 32
TP53 18 4 4 2 0 0 0 0 2 30
PRC1 0 0 19 0 0 0 0 0 0 19
ABCC1 0 0 9 0 0 3 0 0 0 12
PPM1D 4 1 2 1 1 0 0 0 0 9
BARD1, LOC129935544 0 0 2 2 4 0 0 0 0 8
RAD54L 0 1 7 0 0 0 0 0 0 8
BARD1, LOC129935540, LOC129935541 3 0 3 0 0 0 0 0 0 6
ERBB2 0 0 0 0 0 0 0 0 5 5
HMMR 0 0 5 0 0 0 0 0 0 5
PIK3CA 0 1 0 0 0 0 0 0 4 5
BARD1, LOC129935542, LOC129935543 2 0 2 0 0 0 0 0 0 4
PTEN 1 1 1 0 1 0 0 0 0 4
RAD50, TH2-LCR, TH2LCRR 0 0 3 1 0 0 0 0 0 4
RAD51 2 1 1 0 0 0 0 0 0 4
AKT1 0 1 2 0 0 0 0 0 0 3
BARD1, LOC129935540, LOC129935541, LOC129935542, LOC129935543 1 0 2 0 0 0 0 0 0 3
NBN 1 0 1 1 0 0 0 0 0 3
RAD51C 0 0 2 1 0 0 0 0 0 3
ABCA12, ATIC, BARD1 0 0 2 0 0 0 0 0 0 2
APC 1 0 1 0 0 0 0 0 0 2
CHEK2, HSCB 2 0 0 0 0 0 0 0 0 2
CHEK2, LOC130067165 1 0 1 0 0 0 0 0 0 2
DCTN5, PALB2 1 1 0 0 1 0 0 0 0 2
FANCM 2 0 0 0 0 0 0 0 0 2
GATA3 0 0 0 0 0 0 0 0 2 2
MLH1 1 0 1 0 0 0 0 0 0 2
MUTYH 0 0 2 0 0 0 0 0 0 2
PMS2 0 1 1 0 0 0 0 0 0 2
RAD50, TH2LCRR 0 0 1 0 1 0 0 0 0 2
RAD51D, RAD51L3-RFFL 2 0 0 0 0 0 0 0 0 2
ZNF462 1 1 0 0 0 0 0 0 0 2
ABCA12, BARD1 0 0 1 0 0 0 0 0 0 1
ANKRD30A 0 0 1 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 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 1
ATR 0 0 1 0 0 0 0 0 0 1
BRCA1, LOC110485084, LOC111589215, LOC111589216 1 0 0 0 0 0 0 0 0 1
BRCA1, LOC111589215 1 0 0 0 0 0 0 0 0 1
BRCA2, LOC106721785 0 0 1 0 0 0 0 0 0 1
BRIP1, LOC110120932 0 0 1 0 0 0 0 0 0 1
C22orf31, CCDC117, CHEK2, EMID1, HSCB, KREMEN1, XBP1, ZNRF3 1 0 0 0 0 0 0 0 0 1
CDC73 1 0 0 0 0 0 0 0 0 1
DCTN5, PALB2, PLK1 1 0 0 0 0 0 0 0 0 1
EGFR 0 0 0 0 0 0 0 0 1 1
ESR1 0 0 0 0 0 0 0 1 0 1
KLC1, XRCC3 0 0 1 0 0 0 0 0 0 1
KRAS 0 0 0 0 0 0 0 0 1 1
LOC126860224, NOS3 0 0 1 0 0 0 0 0 0 1
LOC126862223, PRC1 0 0 1 0 0 0 0 0 0 1
LOC129390903, RAD51C 0 0 1 0 0 0 0 0 0 1
LRRC41, RAD54L 0 0 1 0 0 0 0 0 0 1
MLH3 0 0 1 0 0 0 0 0 0 1
MSH2 1 0 0 0 0 0 0 0 0 1
MSH6 0 0 1 0 0 0 0 0 0 1
MT-TE 0 1 1 0 0 0 0 0 0 1
MT-TT 0 1 0 0 0 0 0 0 0 1
NCOR1 0 0 1 0 0 0 0 0 0 1
NDUFAB1, PALB2 1 0 0 0 0 0 0 0 0 1
NDUFAB1, PALB2, UBFD1 1 0 0 0 0 0 0 0 0 1
NOBOX 0 0 1 0 0 0 0 0 0 1
P3R3URF-PIK3R3, PIK3R3 0 0 1 0 0 0 0 0 0 1
PTCH2 0 1 0 0 0 0 0 0 0 1
RAD51B 0 0 1 0 0 0 0 0 0 1
RB1CC1 0 1 0 0 0 0 0 0 0 1
RECQL 0 0 0 0 0 0 0 0 1 1
RET 1 0 0 0 0 0 0 0 0 1
SDHA 1 0 0 0 0 0 0 0 0 1
SLX4 0 0 1 0 0 0 0 0 0 1
TET2 0 0 1 0 0 0 0 0 0 1
TSG101 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 115
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association pathogenic, low penetrance risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1554 326 5541 2446 126 0 2 0 2 9996
Myriad Genetics, Inc. 2856 655 245 1451 3226 0 0 0 0 8433
Baylor Genetics 1130 847 2692 2 97 0 0 0 0 4768
Counsyl 37 75 244 95 13 0 0 0 0 464
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 1 444 445
Mendelics 81 39 178 92 15 0 0 0 0 405
KCCC/NGS Laboratory, Kuwait Cancer Control Center 26 9 150 40 106 0 0 0 0 331
MGZ Medical Genetics Center 41 33 139 92 8 0 0 0 0 313
Leiden Open Variation Database 72 7 66 91 17 0 0 0 0 253
Institute of Human Genetics, University of Leipzig Medical Center 90 27 71 11 5 0 0 0 0 204
Center for Precision Medicine, Meizhou People's Hospital 58 8 85 25 0 0 0 0 0 176
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre 0 19 42 35 0 0 0 0 0 96
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen 40 12 23 5 14 0 0 0 0 93
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 5 5 79 0 0 0 0 0 0 89
Genetics and Molecular Pathology, SA Pathology 31 12 31 6 4 0 0 0 0 84
Centre for Mendelian Genomics, University Medical Centre Ljubljana 34 9 26 3 4 0 0 0 0 76
BRCAlab, Lund University 50 12 0 0 0 0 0 0 0 62
GeneKor MSA 57 3 1 0 0 0 0 0 0 61
Illumina Laboratory Services, Illumina 0 1 33 9 13 0 0 0 0 56
Neuberg Centre For Genomic Medicine, NCGM 4 6 46 0 0 0 0 0 0 56
Division of Medical Genetics, University of Washington 10 1 38 0 0 0 0 0 0 49
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 27 8 6 2 0 0 0 0 0 43
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 10 4 29 0 0 0 0 0 0 43
GeneDx 30 0 4 0 8 0 0 0 0 42
Fulgent Genetics, Fulgent Genetics 5 1 25 3 3 0 0 0 0 37
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 21 0 0 0 0 0 0 0 34
Department of Zoology Govt. MVM College 0 34 0 0 0 0 0 0 0 34
Research Lab, National Institute of Public Health 0 0 29 0 0 3 0 0 0 32
Center of Medical Genetics and Primary Health Care 15 5 9 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 28
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 5 1 5 0 0 0 11 26
King Laboratory, University of Washington 20 0 0 0 0 0 0 0 0 20
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 9 8 2 0 1 0 0 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 3 13 0 0 0 0 18
Department of Human Genetics, Hannover Medical School 6 0 12 0 0 0 0 0 0 18
Genomic Center, National Cancer Institute 16 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 16
Laboratory of Translational Genomics, National Cancer Institute 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 14
Pathway Genomics 3 1 2 0 7 0 0 0 0 13
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 10 2 1 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 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 8 2 0 0 0 0 0 0 0 10
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo 7 1 0 2 0 0 0 0 0 10
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 10 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 1 0 0 0 0 0 0 9
MVZ Praenatalmedizin und Genetik Nuernberg 2 4 2 1 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 9
deCODE genetics, Amgen 2 7 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 8
Faculty of Pharmacy, Medical University of Gdansk 0 0 8 0 0 0 0 0 0 8
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 7 1 0 0 0 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 4 4 0 0 0 0 0 0 0 8
University Health Network, Princess Margaret Cancer Centre 6 1 0 0 0 0 0 0 0 7
Institute of Human Genetics, University of Goettingen 0 2 4 0 0 0 0 0 0 6
Faculty of Pharmacy, Ain Shams University 6 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 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 5 0 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 3 1 0 0 0 0 0 5
Research and Experiment Center, Meizhou People's Hospital 5 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 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 1 0 0 0 0 0 0 4
GenomeConnect, ClinGen 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 4
Department of Medical Laboratory Science, Faculty of Allied Health Sciences, University of Peradeniya 4 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 4
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 2 2 0 0 0 0 0 0 0 4
Biotechnology, Institute of Science, Nirma University 1 0 3 0 0 0 0 0 0 4
OMIM 2 0 1 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 3
Cancer Genetics Service, National Cancer Centre Singapore 1 1 1 0 0 0 0 0 0 3
New York Genome Center 2 1 0 0 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 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 3
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 1 2 0 0 0 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 3 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 2
Centogene AG - the Rare Disease Company 2 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 2
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 2 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 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 1 0 0 0 0 0 0 2
Human Genetics Unit, University Of Colombo 0 2 0 0 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 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 2
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 1 1 0 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 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 2
Eurofins-Biomnis 1 1 0 0 0 0 0 0 0 2
Arcensus 0 2 0 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 2 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 2
Centro Diagnostico Italiano 0 0 1 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 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 1 0 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 0 0 1
Sanfordhealth-Fargo, Sanfordhealth 0 0 1 0 0 0 0 0 0 1
North East Yorkshire Genomic Laboratory Hub 0 1 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 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 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 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 1
Division of Human Genetics, University Cheikh Anta Diop 0 1 0 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Barretos Cancer Hospital 0 0 0 1 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 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 1

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