ClinVar Miner

Variants in gene PALB2

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 risk factor not provided total
1304 464 3389 2079 865 1 10 42 6444

Condition and significance breakdown #

Total conditions: 69
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Familial cancer of breast 1107 278 2512 1383 811 0 0 1 5157
Hereditary cancer-predisposing syndrome 641 134 2048 1356 44 0 0 1 3886
not provided 253 111 816 236 68 0 0 2 1382
not specified 2 2 266 316 92 0 0 22 606
Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3 24 7 133 37 2 0 0 1 204
Breast-ovarian cancer, familial, susceptibility to, 5 38 10 79 25 24 0 8 0 181
PALB2-related disorder 31 9 70 59 1 0 0 7 175
Hereditary breast ovarian cancer syndrome 64 28 20 33 15 0 0 0 159
Malignant tumor of breast 38 14 41 22 10 0 0 0 125
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 22 13 71 16 1 0 0 0 122
Fanconi anemia complementation group N 29 5 60 16 7 0 0 0 116
Breast and/or ovarian cancer 17 5 30 27 7 0 0 0 86
Pancreatic cancer, susceptibility to, 3 6 4 19 2 0 0 2 0 32
Carcinoma of colon 0 1 23 2 0 0 0 0 26
Gastric cancer 26 0 0 0 0 0 0 0 26
Familial pancreatic carcinoma 1 0 13 7 0 0 0 0 21
PALB2-related cancer predisposition 8 2 0 8 0 0 0 0 18
Breast-ovarian cancer, familial, susceptibility to, 1 6 1 4 0 0 0 0 0 11
Hereditary cancer 0 0 2 8 0 0 0 0 10
Inherited breast cancer and ovarian cancer 3 0 6 0 0 0 0 0 9
Breast carcinoma 1 5 2 0 0 0 0 0 8
Familial ovarian cancer 0 0 4 3 1 0 0 0 8
Ovarian cancer 0 2 0 0 5 0 0 0 7
Pancreatic cancer, susceptibility to, 3; Breast cancer, susceptibility to 3 3 1 0 0 0 0 0 7
Breast neoplasm 5 0 1 0 0 0 0 0 6
Chordoma 0 0 6 0 0 0 0 0 6
Endometrial carcinoma 0 0 2 4 0 0 0 0 6
Fanconi anemia complementation group N; Hereditary cancer-predisposing syndrome 0 0 0 0 0 0 0 5 5
Familial cancer of breast; Hereditary cancer-predisposing syndrome 4 0 0 0 0 0 0 0 4
Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 2 0 1 0 0 0 0 0 3
Breast cancer, susceptibility to 2 0 0 0 0 0 0 0 2
Colorectal cancer 2 0 0 0 0 0 0 0 2
Diffuse midline glioma, H3 K27-altered 0 0 2 0 0 0 0 0 2
Fanconi anemia 0 0 1 1 0 0 0 0 2
Hereditary breast ovarian cancer syndrome; Familial pancreatic carcinoma 0 0 1 1 0 0 0 0 2
Lynch syndrome 1 1 1 0 0 0 0 0 0 2
Malignant tumor of pancreas 2 0 0 0 0 0 0 0 2
Ovarian neoplasm 0 0 2 0 0 0 0 0 2
See cases 0 0 2 0 0 0 0 0 2
Anaplastic ependymoma 0 0 1 0 0 0 0 0 1
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 0 0 1 0 0 0 0 0 1
Bile duct cancer 0 0 1 0 0 0 0 0 1
Carcinoma of pancreas 1 0 0 0 0 0 0 0 1
Colonic neoplasm 1 0 0 0 0 0 0 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 0 1 0 0 0 0 0 1
Familial cancer of breast; Fanconi anemia complementation group N; Familial ovarian cancer 0 0 0 0 0 0 0 1 1
Familial cancer of breast; Fanconi anemia complementation group N; Hereditary cancer-predisposing syndrome 0 0 0 0 0 0 0 1 1
Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Esophageal atresia/tracheoesophageal fistula 0 0 1 0 0 0 0 0 1
Familial cancer of breast; Pancreatic cancer, susceptibility to, 3 0 0 1 0 0 0 0 0 1
Fanconi anemia complementation group N; Malignant tumor of breast 0 0 0 0 0 0 0 1 1
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Malignant tumor of breast 0 0 0 0 0 0 0 1 1
Fanconi anemia; Hereditary cancer 0 0 0 0 0 0 0 1 1
Generalized hypopigmentation; Basal cell carcinoma 1 0 0 0 0 0 0 0 1
Infiltrating duct carcinoma of breast 0 0 1 0 0 0 0 0 1
Inherited ovarian cancer (without breast cancer) 1 0 0 0 0 0 0 0 1
Inherited prostate cancer 1 0 0 0 0 0 0 0 1
Lung cancer 1 0 0 0 0 0 0 0 1
Lung sarcomatoid carcinoma 0 0 1 0 0 0 0 0 1
NICE approved PARP inhibitor treatment 1 0 0 0 0 0 0 0 1
Neoplasm of uterus; Family history of cancer 1 0 0 0 0 0 0 0 1
Neuroendocrine tumor of pancreas 1 0 0 0 0 0 0 0 1
Ovarian carcinoma 0 1 0 0 0 0 0 0 1
Papillary thyroid carcinoma 0 0 1 0 0 0 0 0 1
Pilocytic astrocytoma 0 0 1 0 0 0 0 0 1
Precursor B-cell acute lymphoblastic leukemia 1 0 0 0 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 0 0 1
Triple-negative breast cancer 0 0 0 0 0 1 0 0 1
Uterine corpus cancer 1 0 0 0 0 0 0 0 1
bilateral breast cancer 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 150
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 817 52 2395 1115 60 0 0 0 4439
Ambry Genetics 579 104 1549 1163 20 0 0 0 3415
Myriad Genetics, Inc. 698 80 57 273 786 0 0 0 1894
Color Diagnostics, LLC DBA Color Health 226 35 888 499 29 0 0 0 1677
GeneDx 168 68 543 248 85 0 0 0 1112
Leiden Open Variation Database 123 12 261 105 43 0 0 0 544
Baylor Genetics 114 94 282 0 0 0 0 0 489
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 74 31 206 98 23 0 0 0 432
Quest Diagnostics Nichols Institute San Juan Capistrano 78 27 248 63 16 0 0 0 432
Department of Pathology and Laboratory Medicine, Sinai Health System 53 9 166 99 11 0 0 0 338
Fulgent Genetics, Fulgent Genetics 34 15 174 37 2 0 0 0 262
Sema4, Sema4 23 11 114 84 17 0 0 0 249
Counsyl 29 42 109 55 3 0 0 0 238
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 16 8 71 107 14 0 0 0 216
PreventionGenetics, part of Exact Sciences 26 7 81 73 20 0 0 0 207
Mendelics 26 12 62 35 9 0 0 0 144
CeGaT Center for Human Genetics Tuebingen 27 6 32 62 1 0 0 0 128
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre 0 18 42 35 0 0 0 0 95
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 13 5 30 27 7 0 0 0 82
Illumina Laboratory Services, Illumina 8 1 46 23 7 0 0 0 79
Genetic Services Laboratory, University of Chicago 7 1 38 24 6 0 0 0 76
KCCC/NGS Laboratory, Kuwait Cancer Control Center 14 2 20 6 24 0 0 0 66
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 8 31 13 0 0 0 55
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 8 0 11 14 19 0 0 0 52
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 4 1 16 20 3 0 0 0 44
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 3 1 1 20 15 0 0 0 40
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen 12 5 14 3 5 0 0 0 39
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 1 0 4 18 14 0 0 0 37
Clinical Genetics Laboratory, Skane University Hospital Lund 11 9 15 0 0 0 0 0 35
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 1 0 16 12 0 0 0 32
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 7 2 19 3 0 0 0 0 31
MGZ Medical Genetics Center 9 5 16 0 0 0 0 0 30
GeneKor MSA 9 3 18 0 0 0 0 0 30
Institute of Human Genetics, University of Leipzig Medical Center 19 4 6 1 1 0 0 0 30
Genetics and Molecular Pathology, SA Pathology 14 2 10 2 1 0 0 0 29
Breakthrough Genomics, Breakthrough Genomics 0 0 4 18 7 0 0 0 29
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 4 19 4 0 0 0 28
Revvity Omics, Revvity 16 2 8 0 0 0 0 0 26
True Health Diagnostics 1 0 6 19 0 0 0 0 26
Laboratory for Genotyping Development, RIKEN 26 0 0 0 0 0 0 0 26
University of Washington Department of Laboratory Medicine, University of Washington 15 0 0 9 1 0 0 0 25
SNPedia 24 0 0 0 0 0 0 0 24
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 21 0 0 0 0 0 23
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 6 1 13 3 0 0 0 0 23
ITMI 0 0 0 0 0 0 0 22 22
BRCAlab, Lund University 19 3 0 0 0 0 0 0 22
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 15 5 1 0 0 0 0 0 21
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 6 0 2 9 3 0 0 0 20
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 12 4 0 0 0 18
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 1 11 0 0 0 0 0 17
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 10 5 1 0 0 0 0 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 1 4 8 0 0 0 0 16
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 2 2 3 8 1 0 0 0 16
Juno Genomics, Hangzhou Juno Genomics, Inc 9 6 0 0 0 0 0 0 15
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 15 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 6 2 1 0 0 0 0 14
Cancer Genomics Group, Japanese Foundation For Cancer Research 1 4 8 1 0 0 0 0 14
Neuberg Centre For Genomic Medicine, NCGM 1 4 8 0 0 0 0 0 13
OMIM 6 0 0 0 0 0 10 0 12
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 9 3 0 0 0 0 0 0 12
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 7 3 0 2 0 0 0 0 12
King Laboratory, University of Washington 4 0 0 0 7 0 0 0 11
Mayo Clinic Laboratories, Mayo Clinic 2 1 8 0 0 0 0 0 11
Eurofins Ntd Llc (ga) 1 0 4 2 3 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 5 1 0 0 0 0 10
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 2 7 1 0 0 0 0 0 10
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 4 0 6 0 0 0 0 0 10
Pathway Genomics 2 0 0 0 7 0 0 0 9
deCODE genetics, Amgen 2 7 0 0 0 0 0 0 9
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 1 0 4 4 0 0 0 0 9
Division of Medical Genetics, University of Washington 2 0 6 0 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 6 1 0 0 0 0 0 0 7
Vantari Genetics 0 0 0 3 4 0 0 0 7
Center of Medical Genetics and Primary Health Care 2 0 3 0 2 0 0 0 7
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 2 0 0 5 0 0 0 7
CZECANCA consortium 6 0 0 0 0 0 0 0 6
Integrative Tumor Epidemiology Branch, National Institutes of Health 0 0 6 0 0 0 0 0 6
Clinical Genetics and Genomics, Karolinska University Hospital 5 0 0 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 0 5 5
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 2 0 0 0 0 0 0 4
Yang An-Suei Laboratory, Academia Sinica 4 0 0 0 0 0 0 0 4
3DMed Clinical Laboratory Inc 3 0 1 0 0 0 0 0 4
Academic Department of Medical Genetics, University of Cambridge 3 0 0 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 0 0 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 1 0 0 0 3
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 2 0 0 0 0 0 3
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 3 0 0 0 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 1 1 1 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 3 0 0 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 0 2 0 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 0 2
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center 0 2 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 1 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 0 0 2
New York Genome Center 2 0 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 0 0 2
DASA 1 1 0 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 1 1 0 0 0 0 0 0 2
Arcensus 0 2 0 0 0 0 0 0 2
Oncological Genetic Counseling Clinic, "Carlo Poma" Hospital 0 0 2 0 0 0 0 0 2
Kong lab, Department of Laboratory Medicine, National Cancer Center 1 1 0 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 0 1
Centro Diagnostico Italiano 0 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 0 1
Molecular Oncology Laboratory, Centre Jean Perrin 0 0 0 0 0 1 0 0 1
Dr. Peter K. Rogan Lab, Western University 0 1 0 0 0 0 0 0 1
Faculty of Pharmacy, Medical University of Gdansk 0 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 0 0 0 0 0 1
Service de Génétique Médicale, Institut Central des Hôpitaux 0 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 0 1 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 0 1
Hereditary Cancer Genetics group, Vall d'Hebron Institute of Oncology 0 1 0 0 0 0 0 0 1
ACT Genomics, 0 0 0 1 0 0 0 0 1
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 1 0 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 0 0 1
Department of Pediatrics, University Hospital Center Zagreb 0 1 0 0 0 0 0 0 1
Genomic Center, National Cancer Institute 1 0 0 0 0 0 0 0 1
Department of Medical Laboratory Science, Faculty of Allied Health Sciences, University of Peradeniya 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 0 1
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich 0 1 0 0 0 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 1
Molekularpathologisches Zentrum, Universitaetsklinikum Heidelberg 1 0 0 0 0 0 0 0 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 0 0 1 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 0 0 1 0 0 0 0 1
Salgia Laboratory, City of Hope 0 0 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 1
Breast Care Center, Daerim St. Mary`s Hospital 1 0 0 0 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 0 0 1
Dipartimento Di Medicina Di Precisione, Azienda Ospedaliera Universitaria Luigi Vanvitelli 1 0 0 0 0 0 0 0 1

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