ClinVar Miner

Variants studied for Familial cancer of breast

Coded as:
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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
4582 1694 7470 2920 456 3 2 2 486 16610

Gene and significance breakdown #

Total genes and gene combinations: 76
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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 1053 262 2345 1175 123 0 0 0 1 4599
CHEK2 662 293 1657 695 33 0 2 0 1 3179
BARD1 402 183 1742 816 58 0 0 0 10 3065
ATM 796 328 496 30 49 0 0 0 1 1569
BRCA2 607 147 310 89 66 0 0 1 185 1377
BRIP1 409 158 354 50 34 0 0 0 0 936
ATM, C11orf65 457 254 277 11 13 0 0 0 0 929
BRCA1 103 7 42 29 47 0 0 0 232 453
CDH1 29 17 140 1 3 0 0 0 0 190
BRCA1, LOC126862571 16 0 10 6 4 0 0 0 40 75
MT-CYB 0 32 3 7 5 0 0 0 0 32
TP53 16 4 4 2 0 0 0 0 2 28
RAD50 1 0 9 3 13 0 0 0 0 26
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
BARD1, LOC129935540, LOC129935541 3 0 3 0 0 0 0 0 0 6
RAD54L 0 1 5 0 0 0 0 0 0 6
ERBB2 0 0 0 0 0 0 0 0 5 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
HMMR 0 0 4 0 0 0 0 0 0 4
PTEN 1 1 1 0 1 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
RAD50, TH2-LCR, TH2LCRR 0 0 2 1 0 0 0 0 0 3
RAD51C 0 0 2 1 0 0 0 0 0 3
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
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
RAD51 2 0 0 0 0 0 0 0 0 2
RAD51D, RAD51L3-RFFL 2 0 0 0 0 0 0 0 0 2
ABCA12, ATIC, BARD1 0 0 1 0 0 0 0 0 0 1
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 0 0 0 0 1 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
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, 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
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
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: 111
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association pathogenic, low penetrance risk factor not provided total
Invitae 1534 314 5533 2446 126 0 2 0 2 9956
Myriad Genetics, Inc. 2772 636 244 136 120 0 0 0 0 3908
Baylor Genetics 1048 720 1739 1 97 0 0 0 0 3605
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 38 182 92 15 0 0 0 0 408
MGZ Medical Genetics Center 41 33 140 91 8 0 0 0 0 313
KCCC/NGS Laboratory, Kuwait Cancer Control Center 23 7 113 40 106 0 0 0 0 289
Leiden Open Variation Database 72 7 66 91 17 0 0 0 0 253
Institute of Human Genetics, University of Leipzig Medical Center 71 26 73 11 5 0 0 0 0 186
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
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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 4 60 0 0 0 0 0 0 67
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 0 34 9 13 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
Neuberg Centre For Genomic Medicine, NCGM 3 1 31 0 0 0 0 0 0 35
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
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 6 1 5 0 0 0 11 27
Center of Medical Genetics and Primary Health Care 15 3 6 0 0 0 0 1 0 25
King Laboratory, University of Washington 19 0 0 0 0 0 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 3 13 0 0 0 0 18
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 7 2 0 1 0 0 0 0 16
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
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 8 1 0 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
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
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
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 4 0 0 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
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
Department of Human Genetics, Hannover Medical School 1 0 2 0 0 0 0 0 0 3
Biotechnology, Institute of Science, Nirma University 1 0 2 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
New York Genome Center 1 1 0 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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 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
Institute of Immunology and Genetics Kaiserslautern 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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