ClinVar Miner

Variants in gene MSH2

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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 not provided total
959 225 1884 853 138 34 3662

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 353 70 1138 579 39 0 2099
Hereditary nonpolyposis colon cancer 290 59 1051 247 49 1 1696
Lynch syndrome 550 104 179 42 51 3 896
not provided 151 44 411 174 39 13 800
not specified 7 0 141 258 62 16 430
Lynch syndrome I 61 20 237 93 32 0 399
Lynch syndrome I; Turcot syndrome; Muir-Torré syndrome 7 0 17 0 0 0 24
Hereditary breast and ovarian cancer syndrome 0 0 13 2 0 0 15
Colorectal cancer, non-polyposis 0 0 7 3 0 0 10
Turcot syndrome 4 0 0 0 0 0 4
Muir-Torré syndrome 3 0 0 0 0 0 3
Ovarian Neoplasms 3 0 0 0 0 0 3
Carcinoma of colon 2 0 0 0 0 0 2
Colon cancer 2 0 0 0 0 0 2
Colorectal cancer 0 0 2 0 0 0 2
Ovarian cancer 0 0 2 0 0 0 2
Acute megakaryoblastic leukemia 0 0 1 0 0 0 1
Acute myeloid leukemia 0 0 1 0 0 0 1
Ataxia-telangiectasia syndrome; breast cancer 0 0 0 0 0 1 1
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 1 0 0 0 1
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 0 0 1 0 0 0 1
Breast and/or ovarian cancer 0 0 0 1 0 0 1
Breast-ovarian cancer, familial 1 0 0 1 0 0 0 1
Colon polyps 0 0 1 0 0 0 1
Embryonal rhabdomyosarcoma; Ectomesenchymoma 0 0 1 0 0 0 1
Ewing sarcoma of soft tissue 0 0 1 0 0 0 1
Glioblastoma 1 0 0 0 0 0 1
High Grade Surface Osteosarcoma 0 0 1 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
Neuroblastoma 0 0 1 0 0 0 1
Papillary thyroid carcinoma 0 0 1 0 0 0 1
Renal cell carcinoma, papillary, 1 0 0 1 0 0 0 1
Wilms Tumor 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 338 68 1137 355 53 0 1950
Ambry Genetics 338 54 945 377 17 0 1731
Color 41 19 461 302 34 0 857
GeneDx 111 13 314 231 51 1 721
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 473 71 16 33 49 0 642
Counsyl 19 6 136 52 0 0 213
Integrated Genetics/Laboratory Corporation of America 29 19 106 36 23 0 213
Quest Diagnostics Nichols Institute San Juan Capistrano 45 10 104 31 16 0 204
Department of Pathology and Laboratory Medicine,Sinai Health System 79 5 16 6 14 0 120
Mendelics 13 4 66 22 15 0 119
Mayo Clinic Genetic Testing 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 12 31 29 1 0 90
PreventionGenetics,PreventionGenetics 2 0 24 24 20 0 70
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 11 2 26 3 6 0 48
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 9 0 14 2 19 0 44
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 13 8 0 0 25
OMIM 23 0 0 0 1 0 24
Fulgent Genetics,Fulgent Genetics 7 0 17 0 0 0 24
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
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 5 0 0 14
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 10 1 0 0 12
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 11 0 0 0 0 0 11
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 0 10 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 Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 3 0 3 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
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
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
Department of Molecular Diagnostics,Institute of Oncology 0 2 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
Institute of Human Genetics,University of Goettingen 0 0 1 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 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

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