ClinVar Miner

Variants in gene MSH2

See also:
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
2160 652 3795 3266 1249 99 8351

Condition and significance breakdown #

Total conditions: 84
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 1181 244 2215 2206 148 0 5324
Hereditary nonpolyposis colorectal neoplasms 872 127 1987 1703 341 1 5029
Lynch syndrome 1 805 291 610 499 814 10 2708
not provided 306 116 846 292 115 22 1559
Lynch syndrome 526 114 644 249 58 4 1558
not specified 7 0 375 439 125 19 849
Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2 44 17 116 42 3 0 222
MSH2-related disorder 13 4 74 70 2 0 163
Hereditary nonpolyposis colon cancer 102 41 3 6 3 2 157
Carcinoma of colon 51 7 26 9 9 0 102
Breast and/or ovarian cancer 2 1 38 37 17 0 95
Muir-Torré syndrome 8 2 36 24 0 0 70
Malignant tumor of breast 2 0 36 20 1 0 59
Lynch-like syndrome 38 2 3 0 0 0 43
Inherited MMR deficiency (Lynch syndrome) 25 1 4 0 1 0 31
Hereditary breast ovarian cancer syndrome 1 1 19 1 3 0 25
Lynch syndrome 1; Mismatch repair cancer syndrome 1; Muir-Torré syndrome 7 0 17 0 0 0 24
Familial cancer of breast 7 6 3 4 0 1 21
Gastric cancer 14 0 0 0 0 6 20
Endometrial carcinoma 7 1 4 5 1 0 18
Breast carcinoma 5 0 6 3 2 0 16
Hereditary cancer 0 0 1 10 0 0 11
Colorectal cancer, non-polyposis 0 0 7 3 0 0 10
Inherited ovarian cancer (without breast cancer) 3 0 4 2 1 0 10
Mismatch repair cancer syndrome 1 2 0 6 0 2 0 10
Ovarian cancer 0 3 2 0 4 1 10
Mismatch repair cancer syndrome 2 7 0 1 0 0 0 8
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Colon adenocarcinoma 0 0 0 0 0 5 5
Lynch syndrome 1; Mismatch repair cancer syndrome 1 0 0 0 0 0 5 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 3 0 0 0 4
Colorectal cancer 2 0 2 0 0 0 4
Lynch syndrome; Mismatch repair cancer syndrome 2 0 0 0 0 0 4 4
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Neoplasm 2 2 0 0 0 0 4
Ovarian neoplasm 3 0 1 0 0 0 4
Papillary renal cell carcinoma type 1 0 0 1 0 0 3 4
Sarcoma 0 0 1 0 0 3 4
Cervical cancer 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 3 3
Colon cancer 2 0 1 0 0 0 3
Inherited polyposis and early onset colorectal cancer - germline testing 2 0 1 0 0 0 3
Lung cancer 0 0 0 0 0 3 3
Uterine corpus cancer 2 1 0 0 0 0 3
Hepatocellular carcinoma 0 0 0 0 0 2 2
Lynch syndrome 1; Breast-ovarian cancer, familial, susceptibility to, 1 0 1 1 0 0 0 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 0 0 1 0 0 0 1
Acute myeloid leukemia 0 0 0 0 0 1 1
Ataxia-telangiectasia syndrome; Malignant tumor of breast 0 0 0 0 0 1 1
Bile duct cancer 0 0 1 0 0 0 1
Cancer or benign tumor 0 0 0 1 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colonic diverticula 1 0 0 0 0 0 1
Colorectal cancer, hereditary nonpolyposis, type 2 0 0 1 0 0 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 1 0 0 0 0 0 1
Ependymoma 0 1 0 0 0 0 1
Familial colorectal cancer 0 1 0 0 0 0 1
Familial colorectal cancer; Lynch syndrome 1 0 0 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Glioblastoma 1 0 0 0 0 0 1
Hepatoblastoma 0 1 0 0 0 0 1
Hereditary nonpolyposis colorectal carcinoma 1 0 0 0 0 0 1
Infiltrating duct carcinoma of breast 0 0 1 0 0 0 1
Intestinal polyposis syndrome 0 0 1 0 0 0 1
Lynch syndrome 1; Mismatch repair cancer syndrome 2 0 0 0 0 0 1 1
Lynch syndrome 1; Muir-Torré syndrome 1 0 0 0 0 0 1
Lynch syndrome 4 1 0 0 0 0 0 1
MSH2 POLYMORPHISM 0 0 0 0 1 0 1
Malignant glioma 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of ascending colon 1 0 0 0 0 0 1
Melanoma 0 0 0 0 0 1 1
Muir-Torré syndrome; Lynch syndrome 0 0 0 0 0 1 1
Multiple monogenic benign skin tumours 0 0 1 0 0 0 1
Ovarian cyst 1 0 0 0 0 0 1
Polyp of colon 0 0 1 0 0 0 1
Rectal neoplasm 0 1 0 0 0 0 1
Rhabdomyosarcoma 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Sigmoid colon cancer 1 0 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 162
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 894 129 1989 1705 342 0 5058
Ambry Genetics 1149 199 1433 1920 93 0 4794
Myriad Genetics, Inc. 720 189 55 391 788 0 2143
Color Diagnostics, LLC DBA Color Health 133 46 1057 597 55 0 1888
GeneDx 151 37 587 306 125 1 1207
All of Us Research Program, National Institutes of Health 18 8 580 207 8 0 821
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 469 71 16 33 49 0 638
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 120 53 259 159 38 0 629
Quest Diagnostics Nichols Institute San Juan Capistrano 106 29 327 78 29 0 569
Department of Pathology and Laboratory Medicine, Sinai Health System 159 26 238 108 18 0 549
Baylor Genetics 66 41 382 0 0 0 489
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 14 13 57 168 39 0 291
Sema4, Sema4 7 5 138 77 34 0 261
PreventionGenetics, part of Exact Sciences 12 1 89 93 22 0 217
Counsyl 19 6 136 52 0 0 213
Mendelics 19 6 56 38 48 0 167
Mayo Clinic Laboratories, Mayo Clinic 40 25 34 28 29 0 156
CeGaT Center for Human Genetics Tuebingen 27 3 38 68 7 0 143
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 17 1 36 26 24 0 104
Fulgent Genetics, Fulgent Genetics 15 8 66 12 2 0 103
University of Washington Department of Laboratory Medicine, University of Washington 17 22 29 30 1 0 98
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 38 37 17 0 92
Illumina Laboratory Services, Illumina 0 1 64 22 5 0 92
Genetic Services Laboratory, University of Chicago 0 0 50 18 7 0 75
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 18 15 28 4 6 0 71
Molecular Pathology, Peter Maccallum Cancer Centre 20 3 32 13 1 0 69
Breakthrough Genomics, Breakthrough Genomics 0 0 5 10 39 0 54
KCCC/NGS Laboratory, Kuwait Cancer Control Center 7 2 4 17 23 0 53
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 0 17 13 21 0 51
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 17 3 5 7 16 0 48
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 7 2 19 16 4 0 48
Constitutional Genetics Lab, Leon Berard Cancer Center 38 2 3 0 0 0 43
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 34 3 0 0 38
Revvity Omics, Revvity 15 8 13 1 0 0 37
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 12 2 2 8 12 0 36
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 34 34
Clinical Genetics, Academic Medical Center 2 0 3 9 18 0 32
Institute of Human Genetics, University of Leipzig Medical Center 8 7 9 4 3 0 31
Clinical Genetics Laboratory, Skane University Hospital Lund 16 8 6 0 0 0 30
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 9 1 3 5 8 0 26
GeneKor MSA 4 0 17 0 5 0 26
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 4 0 2 2 16 0 24
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 7 2 12 0 2 0 23
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 2 0 1 4 15 0 22
OMIM 21 0 0 0 1 0 22
Clinical Genetics and Genomics, Karolinska University Hospital 18 3 0 0 0 0 21
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 2 8 10 0 21
CSER _CC_NCGL, University of Washington 0 1 14 4 1 0 20
Eurofins Ntd Llc (ga) 4 0 5 0 11 0 20
Neuberg Centre For Genomic Medicine, NCGM 6 5 9 0 0 0 20
True Health Diagnostics 0 0 8 9 3 0 20
ITMI 0 0 0 0 0 19 19
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 15 0 2 0 0 0 17
MGZ Medical Genetics Center 5 3 9 0 0 0 17
Pathway Genomics 2 2 5 1 7 0 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 2 9 1 1 0 16
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 0 13 1 1 0 15
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 15 15
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 12 0 2 0 14
Genetics and Molecular Pathology, SA Pathology 10 1 2 1 0 0 14
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 5 0 7 0 2 0 14
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 2 8 0 0 0 14
Laboratory for Genotyping Development, RIKEN 14 0 0 0 0 0 14
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 8 0 2 3 0 0 13
Dasa 9 0 0 3 1 0 13
GenomeConnect, ClinGen 0 0 0 0 0 13 13
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 10 1 0 0 12
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 4 1 5 0 2 0 12
Clinical and Functional Genomics Group, A.C.Camargo Cancer Center 11 0 0 0 0 0 11
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 7 2 2 0 0 0 11
GeneReviews 1 0 0 0 0 10 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 9 0 11
Human Genetics Bochum, Ruhr University Bochum 8 2 1 0 0 0 11
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 1 0 4 4 1 0 10
Department of Genetic and Genomic Medicine, National Cheng Kung University Hospital 3 2 2 2 0 0 9
Harris Lab, University of Minnesota 0 0 0 0 0 9 9
Institute of Immunology and Genetics Kaiserslautern 3 2 4 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 3 0 2 0 8
Division of Medical Genetics, University of Washington 1 0 7 0 0 0 8
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 5 0 0 0 0 7
Genetics and Personalized Medicine Clinic, Tartu University Hospital 2 5 0 0 0 0 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 6 1 0 0 0 0 7
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 3 0 0 4 0 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 5 0 0 0 7
CZECANCA consortium 4 2 0 0 0 0 6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 1 3 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 3 0 3 0 6
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 2 1 0 0 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 4 1 0 6
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 5 0 1 0 0 0 6
Department of Human Genetics, Hannover Medical School 4 1 0 0 0 0 5
3DMed Clinical Laboratory Inc 4 0 0 0 0 0 4
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 2 1 0 0 0 4
Ding PR Lab, Sun Yat-sen University Cancer Center 0 0 4 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 3 0 0 1 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 0 0 0 0 4
MVZ Medizinische Genetik Mainz 3 0 1 0 0 0 4
NHS Central & South Genomic Laboratory Hub 3 1 0 0 0 0 4
Vantari Genetics 0 0 0 0 4 0 4
deCODE genetics, Amgen 2 2 0 0 0 0 4
3billion 1 0 2 0 0 0 3
Institute of Human Genetics, University of Goettingen 1 0 2 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 2 0 0 0 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 3 3
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 1 0 2 0 0 0 3
Swedish National ChiCaP Initative, Genomic Medicine Sweden 2 1 0 0 0 0 3
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 2 1 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 2
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital and Chulalongkorn University, Chulalongkorn University 0 0 2 0 0 0 2
Genesis Genomics 2 0 0 0 0 0 2
Genetic Laboratory, Instituto Nacional de Cancer 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Otogenetics 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 2 0 0 0 0 0 2
Variantyx, Inc. 2 0 0 0 0 0 2
Academic Department of Medical Genetics, University of Cambridge 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Biotechnology, Institute of Science, Nirma University 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Cancer Genome Medicine, Jichi Medical University 1 0 0 0 0 0 1
Cancer Genomics Lab, PINUM Cancer Hospital 1 0 0 0 0 0 1
Catlab - Consorci Sanitari de Terrassa 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
Genomic Center, National Cancer Institute 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 0 1 0 1
Laboratory of Human Molecular Genetics, Federal University of Alagoas 1 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 1
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 0 0 1 0 0 0 1
Medical Genetics, Medical University Pleven 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 1 0 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 1
Molecular Oncology, Hospital Universitario Central de Asturias (HUCA) 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Service de Génétique Médicale, Institut Central des Hôpitaux 0 0 1 0 0 0 1

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