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
3716 1466 7465 2909 452 3 2 2 486 15670

Gene and significance breakdown #

Total genes and gene combinations: 75
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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 1049 258 2346 1172 120 0 0 0 1 4593
CHEK2 662 290 1657 693 33 0 2 0 1 3177
BARD1 397 182 1743 815 58 0 0 0 10 3059
BRCA2 606 147 310 89 66 0 0 1 185 1376
ATM 234 208 493 29 49 0 0 0 1 985
BRIP1 399 158 354 46 34 0 0 0 0 923
ATM, C11orf65 175 154 276 11 13 0 0 0 0 607
BRCA1 101 7 41 29 47 0 0 0 232 450
CDH1 29 17 140 1 3 0 0 0 0 190
BRCA1, LOC126862571 16 0 10 6 3 0 0 0 40 74
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 8 3 13 0 0 0 0 25
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
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: 106
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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
Baylor Genetics 1048 720 1739 1 97 0 0 0 0 3605
Myriad Genetics, Inc. 1696 352 245 126 117 0 0 0 0 2536
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 37 187 88 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 7 112 40 106 0 0 0 0 288
Leiden Open Variation Database 72 7 66 91 17 0 0 0 0 253
Institute of Human Genetics, University of Leipzig Medical Center 69 24 70 11 5 0 0 0 0 179
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
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
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen 24 9 20 5 14 0 0 0 0 71
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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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
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 Medical Genetics and Applied Genomics, University Hospital Tübingen 5 5 2 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 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
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
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
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
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
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 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
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
Genetic Medical Diagnostic Laboratory CellGenetics, GMDL CellGenetics 1 0 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 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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