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
501 209 1565 853 86 1 10 25 2912

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Hereditary cancer-predisposing syndrome 332 58 1085 583 39 0 0 0 2000
Familial cancer of breast 293 108 1017 226 16 0 0 0 1606
not provided 136 79 351 343 44 0 0 2 903
not specified 1 0 57 227 56 0 0 22 316
Fanconi anemia 0 0 9 23 3 0 0 0 35
Pancreatic cancer 3 8 0 3 2 6 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
Hereditary breast and ovarian cancer syndrome 8 10 1 0 0 0 0 0 19
Fanconi anemia, complementation group N 11 0 2 0 0 0 0 0 13
Breast cancer, susceptibility to 1 0 0 0 0 0 7 0 8
Ovarian Neoplasms 3 4 0 0 0 0 0 0 7
Neoplasm of the breast 5 0 1 0 0 0 0 0 6
PALB2-Related Disorders 3 1 1 0 0 0 0 0 5
Familial cancer of breast; Fanconi anemia, complementation group N; Pancreatic cancer 3; Tracheoesophageal fistula 2 0 2 0 0 0 0 0 4
Cancer of the pancreas 2 0 0 0 0 0 0 0 2
Neoplasm of ovary 1 0 1 0 0 0 0 0 2
Tumor susceptibility linked to germline BAP1 mutations 2 0 0 0 0 0 0 0 2
breast cancer 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
Breast carcinoma 0 0 1 0 0 0 0 0 1
Familial cancer of breast; Pancreatic cancer 3 0 0 1 0 0 0 0 0 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
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 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 272 38 957 361 41 0 0 0 1669
Ambry Genetics 291 43 877 424 16 0 0 0 1651
Color 103 11 452 295 30 0 0 0 891
GeneDx 113 71 286 214 47 0 0 0 731
Counsyl 30 42 109 55 3 0 0 0 239
Integrated Genetics/Laboratory Corporation of America 11 17 80 38 17 0 0 0 163
Quest Diagnostics Nichols Institute San Juan Capistrano 38 6 77 35 11 0 0 0 159
Mendelics 24 12 65 26 3 0 0 0 127
PALB2 database 18 2 19 73 12 0 0 0 124
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 19 42 35 0 0 0 0 96
PreventionGenetics,PreventionGenetics 1 0 17 18 19 0 0 0 55
Illumina Clinical Services Laboratory,Illumina 3 1 10 25 3 0 0 0 42
GeneKor MSA 10 3 18 0 0 0 0 0 31
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 12 9 0 0 0 0 24
ITMI 0 0 0 0 0 0 0 22 22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 0 3 4 10 0 0 0 21
Genetic Services Laboratory, University of Chicago 2 0 4 7 0 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 4 2 3 0 0 0 11
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 8 2 0 0 0 0 0 0 10
Pathway Genomics 2 0 0 0 7 0 0 0 9
Vantari Genetics 0 0 0 3 4 0 0 0 7
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 3 4 0 0 0 0 0 0 7
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 0 5 0 0 0 0 0 6
Center of Medical Genetics and Primary Health Care 2 1 2 0 0 0 0 0 5
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 2 0 0 0 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 0 0 3
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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Department of Molecular Diagnostics,Institute of Oncology 0 2 0 0 0 0 0 0 2
Division of Genomic Diagnostics,The 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
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
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology 0 1 0 0 0 0 0 0 1

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