ClinVar Miner

Variants in gene MSH6

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Minimum submission review status: Collection method:
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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 affects not provided total
2110 674 5722 3174 1654 1 94 10346

Condition and significance breakdown #

Total conditions: 82
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Hereditary cancer-predisposing syndrome 1223 231 4107 1871 85 0 0 7191
Hereditary nonpolyposis colorectal neoplasms 1071 76 3044 2343 281 0 0 6815
Lynch syndrome 5 974 181 403 424 1329 0 7 3046
not provided 365 141 1238 388 127 0 10 2062
Lynch syndrome 263 106 967 449 52 0 5 1785
not specified 5 3 522 572 122 0 20 1116
Endometrial carcinoma 129 118 600 3 1 0 0 848
Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3 35 15 156 35 4 0 0 245
MSH6-related disorder 28 7 83 106 1 0 0 225
Hereditary nonpolyposis colon cancer 93 54 0 3 8 0 2 159
Carcinoma of colon 43 6 32 27 10 0 0 118
Breast and/or ovarian cancer 6 3 41 52 12 0 0 114
Mismatch repair cancer syndrome 3 20 1 32 21 0 0 0 74
Malignant tumor of breast 3 1 43 16 3 0 0 66
Lynch syndrome 1 20 13 11 6 3 0 8 60
Inherited MMR deficiency (Lynch syndrome) 29 5 5 2 0 0 0 40
Gastric cancer 29 0 0 0 0 0 7 36
Endometrial carcinoma; Mismatch repair cancer syndrome 1; Lynch syndrome 5 1 1 31 0 0 0 0 33
Lynch-like syndrome 19 4 9 0 0 0 0 32
Endometrial carcinoma; Lynch syndrome 5 12 5 7 6 0 0 0 30
Hereditary breast ovarian cancer syndrome 1 3 21 4 1 0 0 30
Familial cancer of breast 7 3 5 7 2 0 2 26
Hereditary cancer 0 0 3 13 0 0 0 16
Ovarian cancer 0 3 1 0 11 0 0 15
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 10 0 0 0 0 11
Mismatch repair cancer syndrome 1; Lynch syndrome 5 0 0 0 0 0 0 11 11
Breast carcinoma 3 1 3 1 1 0 0 9
Mismatch repair cancer syndrome 1 6 2 1 0 0 0 0 9
Inherited polyposis and early onset colorectal cancer - germline testing 1 1 5 1 0 0 0 8
Lynch syndrome 5; Mismatch repair cancer syndrome 3 1 1 3 1 0 0 2 8
Colorectal cancer 1 1 5 0 0 0 0 7
Inherited ovarian cancer (without breast cancer) 0 1 2 1 1 0 0 5
Inherited prostate cancer 2 1 3 0 0 0 0 5
Ovarian neoplasm 4 1 0 0 0 0 0 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 5 5
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 0 3 3
Colon adenocarcinoma 1 0 0 0 0 0 2 3
Lynch syndrome 1; Breast-ovarian cancer, familial, susceptibility to, 1 0 0 3 0 0 0 0 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 3 3
Colorectal / endometrial cancer 0 0 1 1 0 0 0 2
Colorectal cancer, non-polyposis 0 0 1 1 0 0 0 2
Familial prostate cancer 1 1 0 0 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 0 2 2
Hereditary nonpolyposis colorectal carcinoma 2 0 0 0 0 0 0 2
Lung cancer 0 0 0 0 0 0 2 2
Lymphoma 0 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 0 2 2
Neoplasm 0 1 1 0 0 0 0 2
Papillary carcinoma of the corpus uteri 2 0 0 0 0 0 0 2
Sarcoma 0 0 0 0 0 0 2 2
Uterine corpus cancer 2 0 0 0 0 0 0 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 2 2
Abnormality of the ovary 0 0 1 0 0 0 0 1
Adrenal cortex carcinoma 0 1 0 0 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 0 0 1 0 0 0 0 1
Cerebellar medulloblastoma 0 0 0 0 0 1 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 0 1 1
Colorectal cancer, early onset 0 0 1 0 0 0 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 1 0 0 0 0 0 0 1
Endometrial cancer 0 1 0 0 0 0 0 1
Familial colorectal cancer 1 0 0 0 0 0 0 1
Gaucher disease type I 0 1 0 0 0 0 0 1
Germ cell tumor of testis 0 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 0 1 1
Hepatoblastoma 0 0 1 0 0 0 0 1
Hereditary cancer-predisposing syndrome; Malignant tumor of pancreas; Pancreatic intraductal papillary-mucinous neoplasm 0 0 1 0 0 0 0 1
Lung sarcomatoid carcinoma 0 0 1 0 0 0 0 1
Lynch syndrome 4 0 1 0 0 0 0 0 1
Lynch syndrome; Hereditary nonpolyposis colon cancer 0 0 0 0 0 0 1 1
Lynch syndrome; Mismatch repair cancer syndrome 3 0 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 0 1 1
Ovarian carcinoma 1 0 0 0 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 0 1 1
Prostate cancer 0 0 1 0 0 0 0 1
Rhabdomyosarcoma 1 0 0 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1
Thymoma 0 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 0 1 1
bilateral breast cancer 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 173
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1077 76 3050 2343 281 0 0 6825
Ambry Genetics 1173 193 3589 1554 41 0 0 6550
Color Diagnostics, LLC DBA Color Health 205 41 1568 908 49 0 0 2771
Myriad Genetics, Inc. 934 111 93 304 1305 0 0 2747
GeneDx 234 37 877 419 138 0 0 1705
All of Us Research Program, National Institutes of Health 90 16 853 385 7 0 0 1351
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 109 71 361 249 51 0 0 841
Quest Diagnostics Nichols Institute San Juan Capistrano 127 46 492 128 38 0 0 831
Baylor Genetics 102 114 592 0 0 0 0 808
Department of Pathology and Laboratory Medicine, Sinai Health System 145 23 335 169 23 0 0 694
Sema4, Sema4 13 6 204 121 24 0 0 368
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 39 8 124 159 31 0 0 361
PreventionGenetics, part of Exact Sciences 25 8 97 135 21 0 0 286
Counsyl 17 17 173 68 2 0 0 277
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 160 19 2 29 41 0 0 251
Mayo Clinic Laboratories, Mayo Clinic 41 31 69 30 30 0 0 201
CeGaT Center for Human Genetics Tuebingen 43 3 58 90 6 0 0 200
Mendelics 10 6 74 60 22 0 0 172
Fulgent Genetics, Fulgent Genetics 16 8 108 12 4 0 0 148
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 43 29 38 6 7 0 1 124
Molecular Pathology, Peter Maccallum Cancer Centre 33 9 70 6 0 0 0 118
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 30 4 29 28 26 0 0 117
University of Washington Department of Laboratory Medicine, University of Washington 13 15 50 35 1 0 0 114
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 4 3 41 52 12 0 0 112
Revvity Omics, Revvity 44 33 27 0 0 0 0 104
Genetic Services Laboratory, University of Chicago 6 0 48 29 7 0 0 90
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 14 7 38 22 0 0 0 81
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 2 1 33 24 18 0 0 78
Illumina Laboratory Services, Illumina 2 1 57 7 10 0 0 77
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 1 13 15 33 0 0 63
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 2 53 1 0 0 0 58
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 7 1 35 3 1 0 0 47
Breakthrough Genomics, Breakthrough Genomics 0 0 6 11 26 0 0 43
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 11 1 5 8 18 0 0 43
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 21 19 2 0 0 0 0 42
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 16 0 3 4 18 0 0 41
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 10 1 8 10 12 0 0 41
GeneKor MSA 12 5 15 2 7 0 0 41
Clinical Genetics Laboratory, Skane University Hospital Lund 25 3 12 0 0 0 0 40
Eurofins Ntd Llc (ga) 5 1 10 4 20 0 0 40
Clinical Genetics, Academic Medical Center 3 0 5 13 18 0 0 39
Institute of Human Genetics, University of Leipzig Medical Center 15 11 7 1 1 0 0 35
Constitutional Genetics Lab, Leon Berard Cancer Center 19 4 9 0 0 0 0 32
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 31 31
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 16 2 7 4 0 0 0 29
Laboratory for Genotyping Development, RIKEN 29 0 0 0 0 0 0 29
Institute of Immunology and Genetics Kaiserslautern 14 0 14 0 0 0 0 28
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 25 25
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 3 0 1 1 19 0 0 24
Genetics and Molecular Pathology, SA Pathology 16 5 2 0 1 0 0 24
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 5 0 1 9 9 0 0 24
MGZ Medical Genetics Center 8 7 9 0 0 0 0 24
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 1 11 9 0 0 23
True Health Diagnostics 1 1 7 11 3 0 0 23
ITMI 0 0 0 0 0 0 20 20
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 1 11 5 0 0 0 19
Neuberg Centre For Genomic Medicine, NCGM 1 0 18 0 0 0 0 19
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 5 2 6 5 0 0 0 18
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 4 4 5 4 0 0 0 17
Cancer Genomics Group, Japanese Foundation For Cancer Research 1 0 15 0 0 0 0 16
Clinical Genetics and Genomics, Karolinska University Hospital 16 0 0 0 0 0 0 16
Genome Diagnostics Laboratory, University Medical Center Utrecht 6 0 0 3 7 0 0 16
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 7 7 2 0 0 0 0 16
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 4 11 0 0 0 0 16
OMIM 15 0 1 0 0 0 0 16
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 11 0 3 0 0 15
CSER _CC_NCGL, University of Washington 1 1 10 3 0 0 0 15
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 6 1 7 0 1 0 0 15
Dasa 7 0 3 2 3 0 0 15
CZECANCA consortium 13 1 0 0 0 0 0 14
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 11 3 0 0 0 0 0 14
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 3 0 0 11 0 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 8 1 1 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 0 12 12
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 12 0 0 12
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 7 3 1 0 0 0 0 11
Helix 2 0 9 0 0 0 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 5 6 0 0 0 0 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 10 0 0 0 0 0 0 10
Pathway Genomics 4 0 2 2 2 0 0 10
Human Genetics Bochum, Ruhr University Bochum 3 5 1 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 1 2 0 0 0 0 8
GeneReviews 0 0 0 0 0 0 8 8
Genesis Genomics 7 1 0 0 0 0 0 8
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 4 1 0 0 0 0 7
Laboratory of Genetics, Children's Clinical University Hospital Latvia 2 0 1 4 0 0 0 7
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 5 1 1 0 0 0 0 7
Catlab - Consorci Sanitari de Terrassa 1 0 4 1 0 0 0 6
Clinical and Functional Genomics Group, A.C.Camargo Cancer Center 3 0 3 0 0 0 0 6
Department of Genetic and Genomic Medicine, National Cheng Kung University Hospital 4 2 0 0 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 0 1 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 4 0 0 0 0 6
deCODE genetics, Amgen 1 5 0 0 0 0 0 6
Ding PR Lab, Sun Yat-sen University Cancer Center 0 0 5 0 0 0 0 5
Division of Medical Genetics, University of Washington 2 0 3 0 0 0 0 5
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 5 0 0 0 0 0 0 5
NHS Central & South Genomic Laboratory Hub 3 2 0 0 0 0 0 5
Department of Human Genetics, Hannover Medical School 2 0 2 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 0 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 0 0 0 0 0 0 4
Vantari Genetics 1 0 1 0 2 0 0 4
3billion 1 1 1 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 2 1 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 2 0 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 2 1 0 0 0 0 3
Genetics and Personalized Medicine Clinic, Tartu University Hospital 0 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 2 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 2 0 0 0 0 3
MVZ Praenatalmedizin und Genetik Nuernberg 1 2 0 0 0 0 0 3
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 1 0 2 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 1 0 1 0 0 0 0 2
Center of Medical Genetics and Primary Health Care 0 0 1 0 1 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 2 0 0 0 0 0 2
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 1 1 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 0 2
Genetic Laboratory, Instituto Nacional de Cancer 1 0 0 1 0 0 0 2
Gharavi Laboratory, Columbia University 2 0 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 2 0 0 0 0 0 0 2
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 0 2 0 0 2
MVZ Martinsried, Medicover Genetics 1 0 1 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 2
3DMed Clinical Laboratory Inc 1 0 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 1
Cancer Genomics Laboratory, Texas Children's Hospital 0 0 0 0 0 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Clinical Genetics Lab, Heritas 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 1
Department of Human Anatomy, Histology and Embryology;Department of Pathology, Peking University Health Science Center 1 0 0 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 1
Department of Surgery, Hoshi General Hospital 0 0 1 0 0 0 0 1
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 0 1
EVOGEN 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital and Chulalongkorn University, Chulalongkorn University 0 0 1 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 1 0 0 0 0 0 1
Genomic Center, National Cancer Institute 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 0 1
Laboratorio De Regulación De La Expresión Génica Y Genómica De Cáncer, Departamento De Genética, Facultad De Medicina, Udelar 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 1 0 0 0 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 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 0 1
Otogenetics 0 0 1 0 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 0 0 1 0 0 0 1
Salgia Laboratory, City of Hope 0 0 1 0 0 0 0 1
Seelig Lab, University of Washington 0 0 0 0 0 0 1 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 0 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 0 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 1

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