ClinVar Miner

Variants in gene PMS2

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

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 not provided total
932 397 3362 1983 936 84 6093

Condition and significance breakdown #

Total conditions: 67
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 518 145 2351 1278 71 0 4075
Hereditary nonpolyposis colorectal neoplasms 505 56 2044 1193 153 0 3950
Lynch syndrome 4 379 196 462 292 769 2 1931
not provided 169 96 711 231 95 7 1176
Lynch syndrome 122 67 435 201 41 3 841
not specified 4 0 336 374 101 31 741
Lynch syndrome 4; Mismatch repair cancer syndrome 4 25 16 95 17 3 2 158
PMS2-related disorder 19 12 66 32 1 0 129
Breast and/or ovarian cancer 3 3 53 46 10 0 115
Hereditary nonpolyposis colon cancer 77 26 0 1 1 1 106
Mismatch repair cancer syndrome 4 36 6 21 12 5 0 79
Malignant tumor of breast 4 2 25 20 7 0 58
Endometrial carcinoma 14 3 8 8 16 0 49
Mismatch repair cancer syndrome 1 15 6 13 7 3 2 45
Mismatch repair cancer syndrome 1; Lynch syndrome 4 5 1 27 1 0 6 40
Lynch syndrome 1 7 5 12 3 8 6 37
Carcinoma of colon 11 1 7 4 1 0 24
Inherited MMR deficiency (Lynch syndrome) 16 3 2 1 0 0 22
Hereditary breast ovarian cancer syndrome 2 2 9 4 0 0 17
Gastric cancer 10 0 0 0 0 1 11
Ovarian cancer 0 4 0 0 6 1 11
Hereditary cancer 0 0 1 7 0 0 8
Lynch syndrome; Mismatch repair cancer syndrome 4 0 0 0 0 0 7 7
Lynch-like syndrome 2 0 5 0 0 0 7
Breast-ovarian cancer, familial, susceptibility to, 1 2 0 3 0 0 0 5
Malignant tumor of esophagus 0 0 0 0 0 5 5
Breast neoplasm 0 0 3 0 1 0 4
Familial cancer of breast 0 2 1 0 0 1 4
Hepatocellular carcinoma 0 1 0 0 0 3 4
Thymoma 0 0 0 0 0 4 4
Breast carcinoma 1 1 1 0 0 0 3
Cholangiocarcinoma 0 0 0 0 0 3 3
Inherited polyposis and early onset colorectal cancer - germline testing 0 0 3 0 0 0 3
Ovarian neoplasm 0 0 0 1 2 0 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Colon cancer 1 0 1 0 0 0 2
Lung cancer 0 0 0 0 0 2 2
Polyp of colon 0 1 1 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Breast-ovarian cancer, familial, susceptibility to, 2 1 0 0 0 0 0 1
Burkitt lymphoma; Lymphoma 1 0 0 0 0 0 1
Cancer or benign tumor 0 0 1 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Colorectal cancer, non-polyposis 1 0 0 0 0 0 1
Constitutional mismatch repair deficiency syndrome 0 1 0 0 0 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 0 1 0 0 0 1
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 1 0 0 0 0 0 1
Familial prostate cancer 0 0 0 0 0 1 1
Hereditary nonpolyposis colorectal carcinoma 0 0 1 0 0 0 1
Lynch syndrome 5 0 0 1 0 0 0 1
Lynch syndrome 5; Mismatch repair cancer syndrome 4 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 1 0 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Mismatch repair cancer syndrome 1; Lynch syndrome 0 0 0 0 0 1 1
Neoplasm 0 1 0 0 0 0 1
PMS2-related cancer disorders 1 0 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Pituitary carcinoma 0 1 0 0 0 0 1
Rhabdomyosarcoma 1 0 0 0 0 0 1
Turcot syndrome 1 0 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 156
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 519 59 2045 1195 153 0 3970
Ambry Genetics 485 114 1990 1094 35 0 3718
Color Diagnostics, LLC DBA Color Health 118 29 874 493 57 0 1570
Myriad Genetics, Inc. 333 113 69 232 757 0 1504
GeneDx 127 32 523 222 100 0 1004
All of Us Research Program, National Institutes of Health 51 15 358 179 10 0 613
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 86 36 241 162 39 0 564
Quest Diagnostics Nichols Institute San Juan Capistrano 58 46 315 78 24 0 521
Department of Pathology and Laboratory Medicine, Sinai Health System 87 19 191 108 40 0 445
Baylor Genetics 71 56 308 0 0 0 435
Sema4, Sema4 13 10 138 73 19 0 253
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 8 12 85 118 27 0 250
PreventionGenetics, part of Exact Sciences 21 10 76 50 33 0 190
CeGaT Center for Human Genetics Tuebingen 18 4 39 78 8 0 147
Counsyl 10 10 85 19 13 0 137
Fulgent Genetics, Fulgent Genetics 18 11 90 4 1 0 124
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 3 3 53 46 10 0 115
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 57 11 1 6 28 0 103
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 13 3 23 24 37 0 100
Mayo Clinic Laboratories, Mayo Clinic 16 9 14 20 35 0 94
Genetic Services Laboratory, University of Chicago 4 2 51 24 11 0 92
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 31 29 19 1 9 0 89
Mendelics 4 3 49 25 6 0 87
Illumina Laboratory Services, Illumina 1 4 40 17 16 0 78
Molecular Pathology, Peter Maccallum Cancer Centre 8 5 55 4 0 0 72
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 2 1 29 12 16 0 60
Revvity Omics, Revvity 34 8 7 0 0 0 49
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 10 0 3 10 24 0 47
KCCC/NGS Laboratory, Kuwait Cancer Control Center 3 0 3 13 25 0 44
University of Washington Department of Laboratory Medicine, University of Washington 6 7 20 7 4 0 44
GeneKor MSA 4 1 19 3 13 0 40
Eurofins Ntd Llc (ga) 0 1 6 2 30 0 39
Clinical Genetics, Academic Medical Center 1 0 0 7 24 0 32
ITMI 0 0 0 0 0 31 31
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 9 0 1 6 14 0 30
True Health Diagnostics 3 0 5 17 5 0 30
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 1 0 7 19 0 29
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 7 1 21 1 0 0 29
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 3 0 0 4 21 0 28
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 22 2 1 0 27
Spanish MMR Variant Interpretation Working Group 3 2 11 5 6 0 27
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 13 0 12 0 26
Institute of Human Genetics, University of Leipzig Medical Center 7 4 12 1 3 0 26
Clinical Genetics Laboratory, Skane University Hospital Lund 12 4 9 0 0 0 25
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 24 24
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 4 0 0 6 14 0 24
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 2 6 12 0 21
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 12 6 1 0 0 0 19
OMIM 19 0 0 0 0 0 19
MGZ Medical Genetics Center 6 5 7 0 0 0 18
Dasa 13 0 0 3 1 0 17
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 17 17
Pathway Genomics 1 2 5 2 7 0 17
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 9 1 4 1 1 0 16
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 9 5 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 3 10 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 13 13
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 2 6 0 13
Juno Genomics, Hangzhou Juno Genomics, Inc 4 8 1 0 0 0 13
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 3 1 4 4 0 0 12
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 7 0 3 1 0 0 11
CSER _CC_NCGL, University of Washington 4 2 4 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 4 0 0 0 10
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 7 3 0 0 0 0 10
Laboratory for Genotyping Development, RIKEN 10 0 0 0 0 0 10
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 3 6 0 10
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 4 0 0 6 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 2 7 0 0 0 9
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 1 2 1 4 0 0 8
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 0 7 0 0 0 7
Constitutional Genetics Lab, Leon Berard Cancer Center 2 0 5 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 0 3 2 1 1 0 7
Institute of Immunology and Genetics Kaiserslautern 2 1 4 0 0 0 7
Ding PR Lab, Sun Yat-sen University Cancer Center 0 0 6 0 0 0 6
GeneReviews 0 0 0 0 0 6 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 3 1 0 0 6
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 4 0 2 0 0 0 6
Helix 1 0 5 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 0 0 0 0 0 6
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 0 5 1 0 0 6
Vantari Genetics 1 0 0 3 2 0 6
NHS Central & South Genomic Laboratory Hub 4 0 1 0 0 0 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 3 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 2 0 4
Clinical Genetics and Genomics, Karolinska University Hospital 3 1 0 0 0 0 4
Division of Medical Genetics, University of Washington 1 0 3 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Human Genetics Bochum, Ruhr University Bochum 3 0 1 0 0 0 4
Institute of Human Genetics, Medical University Innsbruck 4 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 1 0 0 0 4
Laboratorio de I+D, Fundación Centro Médico de Asturias 1 1 0 0 2 0 4
Otogenetics 3 1 0 0 0 0 4
deCODE genetics, Amgen 1 3 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 0 0 0 0 3
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 1 0 0 0 0 3
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 1 0 0 0 0 3
Genesis Genomics 3 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
3billion 1 0 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 1 0 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 1 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 2
Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center 2 0 0 0 0 0 2
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 0 0 0 2 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Gharavi Laboratory, Columbia University 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Swedish National ChiCaP Initative, Genomic Medicine Sweden 1 1 0 0 0 0 2
3DMed Clinical Laboratory Inc 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
CHARM Consortium 0 0 0 0 0 1 1
CZECANCA consortium 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 1 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 1 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department Of Pathology & Laboratory Medicine, University Of Pennsylvania 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
Genetic Laboratory, Instituto Nacional de Cancer 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Genetics and Personalized Medicine Clinic, Tartu University Hospital 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Kong lab, Department of Laboratory Medicine, National Cancer Center 0 1 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
New York Genome Center 1 0 0 0 0 0 1
Oncological Genetic Counseling Clinic, "Carlo Poma" Hospital 0 0 1 0 0 0 1
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 1 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 1

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