ClinVar Miner

Variants in gene MLH1

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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
1818 715 2778 1826 870 112 6389

Condition and significance breakdown #

Total conditions: 67
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 903 320 1853 1002 68 0 3966
Hereditary nonpolyposis colorectal neoplasms 769 120 1364 1116 220 0 3587
Colorectal cancer, hereditary nonpolyposis, type 2 711 242 382 400 618 1 2096
Lynch syndrome 554 128 408 189 60 0 1298
not provided 268 136 629 239 121 26 1267
not specified 2 2 254 365 111 17 644
Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 21 12 99 25 4 0 159
Lynch syndrome 1 44 34 22 5 11 23 135
Hereditary nonpolyposis colon cancer 85 36 3 3 1 1 129
MLH1-related disorder 8 6 45 55 0 0 114
Muir-Torré syndrome 10 4 41 19 26 0 100
Breast and/or ovarian cancer 6 0 25 42 11 0 84
Carcinoma of colon 42 12 14 8 4 0 80
Lynch-like syndrome 46 7 5 0 0 0 58
Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 26 3 11 12 0 0 52
Hereditary breast ovarian cancer syndrome 3 1 22 3 1 0 30
Inherited MMR deficiency (Lynch syndrome) 18 6 2 1 0 0 27
Familial cancer of breast 4 7 3 6 0 6 26
Malignant tumor of breast 0 0 10 10 4 0 24
Gastric cancer 11 0 0 0 0 5 16
Mismatch repair cancer syndrome 1 9 0 2 3 0 0 14
Endometrial carcinoma 8 0 2 2 1 0 13
Colon cancer 9 1 1 0 0 0 11
Colorectal cancer, non-polyposis 0 0 7 1 0 0 8
Cervical cancer 0 0 0 0 0 7 7
Hereditary cancer 0 1 0 6 0 0 7
Ovarian cancer 0 0 1 0 5 1 7
Lung cancer 0 1 0 0 0 5 6
Mismatch repair cancer syndrome 1; Colorectal cancer, hereditary nonpolyposis, type 2 0 0 0 0 0 6 6
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 5 5
Breast carcinoma 2 0 1 1 0 0 4
Breast-ovarian cancer, familial, susceptibility to, 1 0 0 3 0 0 0 3
Colonic neoplasm 2 0 1 0 0 0 3
Inherited ovarian cancer (without breast cancer) 0 0 3 0 0 0 3
Lung adenocarcinoma 0 0 3 0 0 0 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Neoplasm 0 2 1 0 0 0 3
Squamous cell carcinoma of the head and neck 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Familial colorectal cancer 0 0 1 0 0 1 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
See cases 2 0 0 0 0 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Adrenal cortex carcinoma 0 1 0 0 0 0 1
Bile duct cancer 0 0 0 0 1 0 1
Childhood neoplasm 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colorectal cancer, sporadic, susceptibility to 1 0 0 0 0 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 1 0 0 0 0 1
Familial colorectal cancer; Lynch syndrome 1 0 0 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hereditary nonpolyposis colorectal carcinoma 0 1 0 0 0 0 1
Inherited polyposis and early onset colorectal cancer - germline testing 1 0 0 0 0 0 1
Lynch syndrome 1; Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 0 0 0 1
Lynch syndrome 5 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Muir-Torré syndrome; Lynch syndrome 0 0 0 0 0 1 1
Primary peritoneal carcinoma 0 0 1 0 0 0 1
Squamous cell carcinoma 0 0 1 0 0 0 1
Thymoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 154
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 781 119 1366 1116 220 0 3601
Ambry Genetics 880 266 1631 703 38 0 3518
Myriad Genetics, Inc. 639 154 27 315 599 0 1734
Color Diagnostics, LLC DBA Color Health 99 60 647 502 42 0 1350
GeneDx 155 39 418 258 116 1 987
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 499 96 19 31 53 0 698
All of Us Research Program, National Institutes of Health 27 8 358 158 8 0 559
Department of Pathology and Laboratory Medicine, Sinai Health System 128 30 197 88 19 0 461
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 100 49 172 98 36 0 455
Quest Diagnostics Nichols Institute San Juan Capistrano 88 49 194 63 28 0 422
Baylor Genetics 59 41 249 0 0 0 349
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 17 12 45 150 46 0 270
Sema4, Sema4 6 5 79 55 29 0 174
PreventionGenetics, part of Exact Sciences 11 7 57 71 18 0 164
Counsyl 17 14 79 49 4 0 163
Mayo Clinic Laboratories, Mayo Clinic 40 18 40 21 25 0 144
CeGaT Center for Human Genetics Tuebingen 20 8 30 60 13 0 131
Mendelics 8 8 34 44 15 0 109
Fulgent Genetics, Fulgent Genetics 11 9 70 11 2 0 103
University of Washington Department of Laboratory Medicine, University of Washington 19 20 30 24 0 0 93
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 2 0 25 42 11 0 80
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 8 4 17 20 23 0 72
Illumina Laboratory Services, Illumina 0 0 51 12 5 0 68
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 20 7 25 5 9 0 66
Molecular Pathology, Peter Maccallum Cancer Centre 22 7 30 2 0 0 61
Breakthrough Genomics, Breakthrough Genomics 0 0 2 15 43 0 60
Constitutional Genetics Lab, Leon Berard Cancer Center 46 7 5 0 0 0 58
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 19 5 18 10 4 0 56
Genetic Services Laboratory, University of Chicago 2 0 31 17 4 0 54
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 22 0 5 6 18 0 51
Revvity Omics, Revvity 21 8 15 0 0 0 44
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 39 39
KCCC/NGS Laboratory, Kuwait Cancer Control Center 4 0 2 8 29 0 37
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 15 1 1 1 17 0 35
GeneKor MSA 13 7 8 1 6 0 35
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 2 12 6 15 0 35
OMIM 29 0 3 0 0 0 32
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 10 0 6 9 6 0 31
Ding PR Lab, Sun Yat-sen University Cancer Center 9 14 8 0 0 0 31
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 27 1 1 0 31
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 11 1 13 4 1 0 30
Clinical Genetics, Academic Medical Center 1 0 5 6 16 0 28
Clinical Genetics Laboratory, Skane University Hospital Lund 13 4 8 0 1 0 26
Eurofins Ntd Llc (ga) 2 0 3 5 13 0 23
GeneReviews 0 0 0 0 0 23 23
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 3 5 11 0 21
Institute of Human Genetics, University of Leipzig Medical Center 11 3 5 2 0 0 21
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 1 0 1 3 15 0 20
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 4 2 14 0 20
Neuberg Centre For Genomic Medicine, NCGM 11 2 8 0 0 0 20
True Health Diagnostics 0 0 7 11 2 0 20
ITMI 0 0 0 0 0 17 17
Center for Human Genetics, Inc, Center for Human Genetics, Inc 3 3 7 2 1 0 16
Clinical Genetics and Genomics, Karolinska University Hospital 15 1 0 0 0 0 16
Pathway Genomics 3 0 3 3 7 0 16
Clinical and Functional Genomics Group, A.C.Camargo Cancer Center 12 1 2 0 0 0 15
MGZ Medical Genetics Center 8 2 5 0 0 0 15
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 6 0 8 0 14
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 8 2 3 1 0 0 14
Dasa 8 1 1 1 3 0 14
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 10 2 2 0 0 0 14
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 10 4 0 0 0 0 14
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 2 1 7 3 1 0 14
Cancer Genomics Group, Japanese Foundation For Cancer Research 1 0 12 0 0 0 13
Genetics and Molecular Pathology, SA Pathology 6 3 3 0 0 0 12
Harris Lab, University of Minnesota 0 0 0 0 0 12 12
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 7 4 1 0 0 0 12
CSER _CC_NCGL, University of Washington 0 0 9 2 0 0 11
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 11 11
Human Genetics Bochum, Ruhr University Bochum 7 4 0 0 0 0 11
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 5 5 1 0 0 0 11
Laboratory for Genotyping Development, RIKEN 11 0 0 0 0 0 11
Department of Genetic and Genomic Medicine, National Cheng Kung University Hospital 5 2 1 1 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 3 4 0 9
CZECANCA consortium 8 0 0 0 0 0 8
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 7 1 0 0 0 0 8
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 1 3 0 8
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 2 0 5 1 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 1 2 0 0 0 8
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 4 0 3 0 0 0 7
Helix 0 0 7 0 0 0 7
Institute of Immunology and Genetics Kaiserslautern 4 0 3 0 0 0 7
3DMed Clinical Laboratory Inc 6 0 0 0 0 0 6
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 3 2 0 0 0 6
Department of Human Genetics, Hannover Medical School 2 1 3 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 5 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 1 0 0 0 6
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 5 0 1 0 0 0 6
Narod's Lab, University of Toronto 0 0 0 0 0 6 6
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 3 1 0 5
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 0 0 0 5 0 5
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 0 0 5 0 0 0 5
3billion 2 1 1 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 1 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 1 2 1 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 0 0 0 0 4
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 4 0 0 0 0 0 4
Catlab - Consorci Sanitari de Terrassa 1 0 1 1 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Center of Medical Genetics and Primary Health Care 0 0 1 0 2 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 0 0 0 0 3
Division of Medical Genetics, University of Washington 1 0 2 0 0 0 3
Genesis Genomics 2 1 0 0 0 0 3
Genetics and Personalized Medicine Clinic, Tartu University Hospital 0 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Vantari Genetics 0 0 1 0 2 0 3
Centre of Medical Genetics, University Hospital Muenster 2 0 0 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 1 0 0 0 0 2
EVOGEN 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
King Laboratory, University of Washington 1 0 0 0 1 0 2
Laboratorio De Regulación De La Expresión Génica Y Genómica De Cáncer, Departamento De Genética, Facultad De Medicina, Udelar 0 2 0 0 0 0 2
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 1 0 1 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 2
NHS Central & South Genomic Laboratory Hub 1 1 0 0 0 0 2
Seelig Lab, University of Washington 0 0 0 0 0 2 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Academic Department of Medical Genetics, University of Cambridge 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Biologie des Tumeurs Solides, CHU de Montpellier 1 0 0 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 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Cancer Genome Medicine, Jichi Medical University 0 0 0 0 1 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Clinical Genomics, G42 Labs 1 0 0 0 0 0 1
Cure Brain Cancer Foundation Neuro-Oncology Group, Adult Cancer Program, University of New South Wales 0 1 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 1 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 0 1 0 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital and Chulalongkorn University, Chulalongkorn University 0 0 1 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 1 0 0 0 0 1
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
Laboratory of Human Molecular Genetics, Federal University of Alagoas 0 1 0 0 0 0 1
MNM Diagnostics 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 1
Molekularpathologisches Zentrum, Universitaetsklinikum Heidelberg 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 1
Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Service de Génétique Médicale, Institut Central des Hôpitaux 0 0 1 0 0 0 1
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 1 0 0 0 0 0 1

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