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
413 190 1338 693 76 1 10 24 2430

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Hereditary cancer-predisposing syndrome 270 44 864 486 38 0 0 0 1614
Familial cancer of breast 232 95 846 351 45 0 0 0 1473
not provided 130 76 347 38 20 0 0 1 592
not specified 0 0 74 218 53 0 0 22 313
Fanconi anemia 0 0 9 23 3 0 0 0 35
Pancreatic cancer 3 10 0 4 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 7 9 1 0 0 0 0 0 17
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
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
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 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
breast cancer 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 217 32 792 239 37 0 0 0 1317
Ambry Genetics 221 28 618 305 15 0 0 0 1187
Color 103 11 452 295 30 0 0 0 891
GeneDx 109 71 286 191 44 0 0 0 701
Counsyl 30 42 109 55 3 0 0 0 239
PALB2 database 43 6 65 86 15 0 0 0 214
Integrated Genetics/Laboratory Corporation of America 11 17 106 16 13 0 0 0 163
Quest Diagnostics Nichols Institute San Juan Capistrano 32 5 57 31 8 0 0 0 125
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 19 42 35 0 0 0 0 96
Mendelics 18 7 49 3 0 0 0 0 77
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 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 0 2 2 9 0 0 0 16
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 4 2 0 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
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
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 Medical Center 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
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
Service de Génétique Médicale,Institut Central des Hôpitaux 0 0 1 0 0 0 0 0 1

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