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
705 240 2148 978 115 1 10 26 3760

Condition and significance breakdown #

Total conditions: 45
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Familial cancer of breast 523 132 1550 554 59 0 0 1 2672
Hereditary cancer-predisposing syndrome 365 64 1211 650 38 0 0 0 2224
not provided 181 86 503 197 26 0 0 2 954
not specified 1 0 99 235 81 0 0 22 380
Malignant tumor of breast 22 5 41 22 10 0 0 0 100
Fanconi anemia, complementation group N 15 0 50 16 7 0 0 0 88
Hereditary breast and ovarian cancer syndrome 17 16 9 1 0 0 0 0 43
Carcinoma of colon 0 1 23 2 0 0 0 0 26
Pancreatic cancer 3 5 1 13 1 0 0 4 0 23
Familial cancer of breast; Fanconi anemia, complementation group N; Pancreatic cancer 3 3 0 19 0 0 0 0 0 22
none provided 1 0 1 5 10 0 0 0 17
Breast and/or ovarian cancer 6 0 0 2 0 0 0 0 8
Breast cancer, susceptibility to 1 0 0 0 0 0 7 0 8
Pancreatic cancer 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
Endometrial carcinoma 0 0 2 4 0 0 0 0 6
Familial ovarian cancer 0 0 3 2 1 0 0 0 6
PALB2-Related Disorders 4 1 1 0 0 0 0 0 6
Familial cancer of breast; Fanconi anemia, complementation group N; Pancreatic cancer 3; Tracheoesophageal fistula 2 0 2 0 0 0 0 0 4
Familial cancer of breast; Hereditary cancer-predisposing syndrome 4 0 0 0 0 0 0 0 4
Cancer of the pancreas 2 0 0 0 0 0 0 0 2
Fanconi anemia 0 0 1 1 0 0 0 0 2
Tumor susceptibility linked to germline BAP1 mutations 2 0 0 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
Breast carcinoma 0 0 1 0 0 0 0 0 1
Breast-ovarian cancer, familial 1 1 0 0 0 0 0 0 0 1
Carcinoma of pancreas 1 0 0 0 0 0 0 0 1
Colorectal cancer 1 0 0 0 0 0 0 0 1
Familial cancer of breast; Pancreatic cancer 3 0 0 1 0 0 0 0 0 1
Fanconi anemia, complementation group N; Hereditary cancer-predisposing syndrome 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
Hereditary breast cancer 0 0 1 0 0 0 0 0 1
Hereditary cancer 0 0 1 0 0 0 0 0 1
Infiltrating duct carcinoma of breast 0 0 1 0 0 0 0 0 1
Neoplasm of ovary 0 0 1 0 0 0 0 0 1
Neuroendocrine tumor of pancreas 1 0 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
Pre-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
bilateral breast cancer 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 484 61 1476 482 44 0 0 0 2547
Ambry Genetics 292 45 867 433 17 0 0 0 1654
Color Health, Inc 167 23 679 390 29 0 0 0 1288
GeneDx 113 71 286 214 47 0 0 0 731
Leiden Open Variation Database 126 12 261 105 42 0 0 0 546
Integrated Genetics/Laboratory Corporation of America 31 21 119 52 20 0 0 0 243
Counsyl 30 42 109 55 3 0 0 0 239
Quest Diagnostics Nichols Institute San Juan Capistrano 51 5 97 41 12 0 0 0 198
Department of Pathology and Laboratory Medicine,Sinai Health System 23 4 59 41 10 0 0 0 137
Mendelics 24 11 63 26 3 0 0 0 127
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 19 42 35 0 0 0 0 96
Illumina Clinical Services Laboratory,Illumina 4 1 48 23 7 0 0 0 76
PreventionGenetics, PreventionGenetics 1 0 17 18 19 0 0 0 55
CeGaT Praxis fuer Humangenetik Tuebingen 13 5 21 15 0 0 0 0 54
GeneKor MSA 10 3 18 0 0 0 0 0 31
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 0 4 8 12 0 0 0 29
True Health Diagnostics 1 0 6 19 0 0 0 0 26
University of Washington Department of Laboratory Medicine, University of Washington 15 0 0 9 1 0 0 0 25
Fulgent Genetics,Fulgent Genetics 4 0 20 0 0 0 0 0 24
SNPedia 24 0 0 0 0 0 0 0 24
ITMI 0 0 0 0 0 0 0 22 22
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 11 5 1 0 0 0 0 0 17
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 13 3 0 0 0 0 0 0 16
Cancer Genomics Group,Japanese Foundation For Cancer Research 1 4 8 1 0 0 0 0 14
Genetic Services Laboratory, University of Chicago 2 0 4 4 3 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 7 0 4 1 1 0 0 0 13
OMIM 5 0 0 0 0 0 10 0 12
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 2 10 0 0 0 0 12
King Laboratory,University of Washington 4 0 0 0 7 0 0 0 11
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 4 2 3 0 0 0 11
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 8 3 0 0 0 0 0 0 11
Pathway Genomics 2 0 0 0 7 0 0 0 9
Baylor Genetics 3 0 5 0 0 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 5 1 0 0 0 0 8
Division of Medical Genetics, University of Washington 2 0 6 0 0 0 0 0 8
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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 6 0 0 0 0 0 0 0 6
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 0 5 0 0 0 0 0 6
CZECANCA consortium 6 0 0 0 0 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 1 1 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 0 0 3
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 2 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
MVZ Praenatalmedizin und Genetik Nuernberg 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 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
Human Genetics Unit,University of Colombo 0 1 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
Service de Génétique Médicale,Institut Central des Hôpitaux 0 0 1 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
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 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 Precision Medicine Group,Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 1 0 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

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