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
841 207 1655 722 115 35 3185

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 289 58 930 493 39 0 1731
Lynch syndrome 555 108 431 102 52 2 1192
Hereditary nonpolyposis colon cancer 148 37 669 190 39 1 1084
not provided 140 43 396 40 20 13 634
not specified 3 0 152 243 61 19 424
Lynch syndrome I 48 17 166 64 18 0 300
Lynch syndrome I; Turcot syndrome; Muir-Torré syndrome 7 0 17 0 0 0 24
Colorectal cancer, non-polyposis 0 0 7 3 0 0 10
Colorectal cancer, hereditary, nonpolyposis, type 1 8 0 0 0 0 0 8
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
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
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
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: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 204 50 801 240 40 0 1335
Ambry Genetics 272 42 692 271 16 0 1293
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 472 73 237 33 49 0 864
Color 41 19 461 302 34 0 857
GeneDx 111 13 314 216 37 1 692
Counsyl 19 6 136 52 0 0 213
Integrated Genetics/Laboratory Corporation of America 29 19 131 11 23 0 213
Quest Diagnostics Nichols Institute San Juan Capistrano 30 9 77 21 11 0 146
Department of Pathology and Laboratory Medicine,Sinai Health System 79 5 16 6 14 0 120
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 35 20 20 10 19 0 104
University of Washington Department of Laboratory Medicine,University of Washington 17 12 31 29 1 0 90
PreventionGenetics 2 0 24 24 20 0 70
Mendelics 8 0 42 0 2 0 52
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 9 0 25 3 6 0 43
Illumina Clinical Services Laboratory,Illumina 0 0 23 15 0 0 38
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 6 0 10 1 12 0 29
OMIM 23 0 0 0 1 0 24
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 Medical Center 0 1 14 4 1 0 20
True Health Diagnostics 0 0 8 9 3 0 20
ITMI 0 0 0 0 0 19 19
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
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 2 4 9 0 16
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 12 0 3 0 15
Genetic Services Laboratory, University of Chicago 0 0 9 5 0 0 14
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
Vantari Genetics 0 0 0 0 4 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
3DMed Clinical Laboratory Inc 4 0 0 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 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
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 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
Institute of Human Genetics,University of Wuerzburg 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
Gharavi Laboratory,Columbia University 1 0 0 0 0 0 1

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