ClinVar Miner

Variants in gene MSH2

See also:
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 not provided total
1135 285 2263 996 141 35 4336

Condition and significance breakdown #

Total conditions: 39
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary nonpolyposis colorectal neoplasms 454 95 1438 417 50 1 2454
Hereditary cancer-predisposing syndrome 379 76 1280 677 39 0 2355
not provided 197 50 460 188 39 14 901
Lynch syndrome 530 103 174 45 51 3 878
not specified 7 0 193 269 67 16 490
Lynch syndrome I 64 29 244 94 32 0 416
Carcinoma of colon 51 7 26 9 9 0 102
Malignant tumor of breast 2 0 36 20 1 0 59
Hereditary nonpolyposis colon cancer 28 17 0 0 0 0 45
Lynch-like syndrome 38 2 3 0 0 0 43
Lynch syndrome I; Turcot syndrome; Muir-Torré syndrome 7 0 17 0 0 0 24
Endometrial carcinoma 6 1 4 5 1 0 17
Hereditary breast and ovarian cancer syndrome 0 0 14 2 0 0 16
none provided 1 0 3 3 8 0 15
Breast carcinoma 2 0 4 3 2 0 11
Colorectal cancer, non-polyposis 0 0 7 3 0 0 10
Turcot syndrome 2 0 4 0 2 0 8
Muir-Torré syndrome 3 0 2 0 0 0 5
Breast and/or ovarian cancer 2 1 0 1 0 0 4
Mismatch repair cancer syndrome 2 4 0 0 0 0 0 4
Colorectal cancer 1 0 2 0 0 0 3
Neoplasm of ovary 3 0 0 0 0 0 3
Malignant tumor of colon 2 0 0 0 0 0 2
Ovarian cancer 0 0 2 0 0 0 2
Ataxia-telangiectasia syndrome; Malignant tumor of breast 0 0 0 0 0 1 1
Bile duct cancer 0 0 1 0 0 0 1
Breast-ovarian cancer, familial 1 0 0 1 0 0 0 1
Colon polyps 0 0 1 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
Glioblastoma 1 0 0 0 0 0 1
MSH2 POLYMORPHISM 0 0 0 0 1 0 1
MSH2-related disorder 0 0 1 0 0 0 1
Malignant tumor of ascending colon 1 0 0 0 0 0 1
Malignant tumor of sigmoid colon 1 0 0 0 0 0 1
Neoplasm of the rectum 0 1 0 0 0 0 1
Renal cell carcinoma, papillary, 1 0 0 1 0 0 0 1
Rhabdomyosarcoma (disease) 1 0 0 0 0 0 1
Sarcoma 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 488 102 1482 472 54 0 2597
Ambry Genetics 341 53 930 390 17 0 1731
Color Health, Inc 83 28 747 434 34 0 1326
GeneDx 111 13 314 231 51 1 721
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 473 71 16 33 49 0 642
Integrated Genetics/Laboratory Corporation of America 54 37 167 60 32 0 350
Department of Pathology and Laboratory Medicine,Sinai Health System 119 10 123 45 17 0 314
Quest Diagnostics Nichols Institute San Juan Capistrano 54 13 126 39 17 0 247
Counsyl 19 6 136 52 0 0 213
Mendelics 13 4 65 22 15 0 119
Mayo Clinic Laboratories, Mayo Clinic 35 20 20 10 19 0 104
Illumina Clinical Services Laboratory,Illumina 0 0 69 22 5 0 96
University of Washington Department of Laboratory Medicine, University of Washington 17 15 31 29 1 0 92
PreventionGenetics, PreventionGenetics 2 0 24 24 20 0 70
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 10 0 17 5 19 0 51
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 11 3 25 3 6 0 48
Constitutional Genetics Lab,Leon Berard Cancer Center 38 2 3 0 0 0 43
CeGaT Praxis fuer Humangenetik Tuebingen 4 1 19 13 0 0 37
OMIM 23 0 0 0 1 0 24
Fulgent Genetics,Fulgent Genetics 7 0 17 0 0 0 24
Institute of Human Genetics, University of Leipzig Medical Center 3 2 9 4 3 0 21
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 5 0 11 0 20
CSER _CC_NCGL, University of Washington 0 1 14 4 1 0 20
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 18 2 0 0 0 0 20
True Health Diagnostics 0 0 8 9 3 0 20
GeneKor MSA 2 0 17 0 0 0 19
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 3 0 1 4 11 0 19
Pathway Genomics 2 2 5 1 7 0 17
ITMI 0 0 0 0 0 16 16
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 2 4 9 0 16
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 0 13 2 0 0 15
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 12 0 2 0 14
Genetic Services Laboratory, University of Chicago 0 0 9 3 2 0 14
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 10 1 0 0 12
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 0 9 2 0 0 12
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 11 0 0 0 0 0 11
Harris Lab, University of Minnesota 0 0 0 0 0 9 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 2 5 0 9
Division of Medical Genetics, University of Washington 1 0 7 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 5 0 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 3 0 3 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 5 0 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 2 0 2 0 5
Baylor Genetics 1 0 3 0 0 0 4
Vantari Genetics 0 0 0 0 4 0 4
3DMed Clinical Laboratory Inc 4 0 0 0 0 0 4
Ding PR Lab,Sun Yat-sen University Cancer Center 0 0 4 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 3 0 0 0 0 0 3
CZECANCA consortium 2 1 0 0 0 0 3
Clinical Genetics laboratory, University of Goettingen 0 0 2 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 1 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 1 1 0 0 0 0 2
Genetic Laboratory,Instituto Nacional de Cancer 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 1 0 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 2 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 1 0 0 1
King Laboratory,University of Washington 1 0 0 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Service de Génétique Médicale,Institut Central des Hôpitaux 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 1 0 0 0 0 0 1
Liquid Biopsy and Precision Medicine Group,Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 0 0 1 0 0 0 1
Genomic Center,National Cancer Institute 1 0 0 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.