ClinVar Miner

Variants in gene MLH1

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 risk factor not provided total
1666 616 2414 1470 257 1 75 5521

Condition and significance breakdown #

Total conditions: 45
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary cancer-predisposing syndrome 803 274 1498 836 63 0 0 3321
Hereditary nonpolyposis colorectal neoplasms 652 126 1371 937 100 0 0 3186
Colorectal cancer, hereditary nonpolyposis, type 2 674 207 294 131 74 0 1 1208
not provided 225 97 521 199 106 0 26 1056
Lynch syndrome 527 120 86 40 55 0 0 806
not specified 2 2 238 296 104 0 17 562
Lynch syndrome 1 40 33 21 5 10 0 23 128
Breast and/or ovarian cancer 6 0 25 42 11 0 0 84
Carcinoma of colon 42 13 13 8 4 0 0 80
MLH1-related condition 3 5 25 45 0 0 0 78
Hereditary nonpolyposis colon cancer 43 21 2 1 1 0 1 69
Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 8 8 40 11 2 0 0 69
Lynch-like syndrome 46 7 5 0 0 0 0 58
Malignant tumor of breast 0 0 10 10 4 0 0 24
Hereditary breast ovarian cancer syndrome 0 0 17 1 0 0 0 18
Endometrial carcinoma 8 0 2 2 1 0 0 13
Muir-Torré syndrome 7 3 3 0 0 0 0 13
Gastric cancer 11 0 0 0 0 0 0 11
Mismatch repair cancer syndrome 1 9 0 2 0 0 0 0 11
Colon cancer 9 0 1 0 0 0 0 10
Colorectal cancer, non-polyposis 0 0 7 1 0 0 0 8
Ovarian cancer 0 0 1 0 5 0 0 6
Mismatch repair cancer syndrome 1; Colorectal cancer, hereditary nonpolyposis, type 2 0 0 0 0 0 0 5 5
Breast carcinoma 2 0 1 1 0 0 0 4
Hereditary cancer 0 0 0 4 0 0 0 4
Lung adenocarcinoma 0 1 3 0 0 0 0 4
Colonic neoplasm 2 0 1 0 0 0 0 3
Inborn genetic diseases 0 0 3 0 0 0 0 3
Familial cancer of breast 1 0 1 0 0 0 0 2
Familial colorectal cancer 0 0 1 0 0 0 1 2
Adrenal cortex carcinoma 0 0 1 0 0 0 0 1
Bile duct cancer 0 0 0 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 0 0 1 0 0 0 0 1
Colorectal cancer, sporadic, susceptibility to 0 0 0 0 0 1 0 1
Familial colorectal cancer; Lynch syndrome 1 0 0 0 0 0 0 1
Gastric adenocarcinoma 0 1 0 0 0 0 0 1
Global developmental delay; Choreoathetosis; Aqueductal stenosis 0 0 1 0 0 0 0 1
Hereditary nonpolyposis colorectal carcinoma 0 1 0 0 0 0 0 1
Lung cancer 0 1 0 0 0 0 0 1
Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 1 0 0 0 0 0 0 1
Muir-Torré syndrome; Lynch syndrome 0 0 0 0 0 0 1 1
Neoplasm of the large intestine 1 0 0 0 0 0 0 1
Primary peritoneal carcinoma 0 0 1 0 0 0 0 1
See cases 1 0 0 0 0 0 0 1
Squamous cell carcinoma 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 118
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 664 127 1376 937 100 0 0 3203
Ambry Genetics 784 224 1275 555 36 0 0 2874
Color Diagnostics, LLC DBA Color Health 87 55 541 444 41 0 0 1168
GeneDx 147 30 348 258 116 0 1 900
Myriad Genetics, Inc. 620 145 31 50 39 0 0 885
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 499 96 19 30 53 0 0 697
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 67 42 175 59 31 0 0 374
Quest Diagnostics Nichols Institute San Juan Capistrano 69 33 134 53 27 0 0 316
Department of Pathology and Laboratory Medicine, Sinai Health System 89 18 110 32 16 0 0 264
Baylor Genetics 54 35 170 0 0 0 0 259
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 9 4 29 96 41 0 0 179
Sema4, Sema4 6 5 79 55 29 0 0 174
Counsyl 17 14 79 49 4 0 0 163
PreventionGenetics, part of Exact Sciences 6 6 37 62 18 0 0 129
Mayo Clinic Laboratories, Mayo Clinic 39 16 34 16 23 0 0 128
Mendelics 8 7 38 38 15 0 0 106
CeGaT Center for Human Genetics Tuebingen 12 7 26 31 8 0 0 84
University of Washington Department of Laboratory Medicine, University of Washington 19 9 30 24 0 0 0 82
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 2 0 25 42 11 0 0 80
Illumina Laboratory Services, Illumina 0 0 55 15 5 0 0 75
Fulgent Genetics, Fulgent Genetics 8 7 38 11 2 0 0 66
Constitutional Genetics Lab, Leon Berard Cancer Center 46 7 5 0 0 0 0 58
Genetic Services Laboratory, University of Chicago 2 0 30 17 4 0 0 53
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 22 0 5 6 18 0 0 51
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 3 11 13 14 0 0 46
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 0 25 5 6 0 0 42
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 15 1 1 1 17 0 0 35
Revvity Omics, Revvity 18 6 9 0 0 0 0 33
OMIM 28 0 3 0 0 1 0 32
KCCC/NGS Laboratory, Kuwait Cancer Control Center 3 0 2 8 19 0 0 32
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 10 0 6 9 6 0 0 31
Ding PR Lab, Sun Yat-sen University Cancer Center 9 14 8 0 0 0 0 31
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 11 1 13 4 1 0 0 30
Clinical Genetics, Academic Medical Center 1 0 5 6 16 0 0 28
Eurofins Ntd Llc (ga) 2 0 3 5 13 0 0 23
GeneReviews 0 0 0 0 0 0 23 23
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 3 5 11 0 0 21
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 2 5 2 11 0 0 20
True Health Diagnostics 0 0 7 11 2 0 0 20
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 4 2 14 0 0 20
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 1 0 1 3 15 0 0 20
ITMI 0 0 0 0 0 0 17 17
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 14 0 1 0 0 17
Center for Human Genetics, Inc, Center for Human Genetics, Inc 3 3 7 2 1 0 0 16
Pathway Genomics 3 0 3 3 7 0 0 16
Clinical Genetics and Genomics, Karolinska University Hospital 15 1 0 0 0 0 0 16
MGZ Medical Genetics Center 8 2 5 0 0 0 0 15
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 12 1 2 0 0 0 0 15
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 6 0 8 0 0 14
GeneKor MSA 1 4 8 1 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 3 3 5 2 0 0 0 13
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 7 1 5 0 0 0 0 13
Harris Lab, University of Minnesota 0 0 0 0 0 0 12 12
Genetics and Molecular Pathology, SA Pathology 6 3 3 0 0 0 0 12
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 0 12 0 0 0 0 12
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 7 3 1 0 0 0 0 11
CSER _CC_NCGL, University of Washington 0 0 9 2 0 0 0 11
Laboratory for Genotyping Development, RIKEN 11 0 0 0 0 0 0 11
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 6 2 2 0 0 0 0 10
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 10 10
Human Genetics Bochum, Ruhr University Bochum 6 4 0 0 0 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 3 4 0 0 9
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 1 3 0 0 8
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 7 1 0 0 0 0 0 8
CZECANCA consortium 8 0 0 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 1 2 0 0 0 0 7
Narod's Lab, University of Toronto 0 0 0 0 0 0 6 6
3DMed Clinical Laboratory Inc 6 0 0 0 0 0 0 6
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 3 2 0 0 0 0 6
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 5 0 1 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 1 0 0 0 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 0 5
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 0 0 0 5 0 0 5
Laboratory of Molecular and Cellular Biology, University of Science and Technology Houari Boumediene 4 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 0 3
Genetics and Personalized Medicine Clinic, Tartu University Hospital 0 3 0 0 0 0 0 3
Vantari Genetics 0 0 1 0 2 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 0 0 0 0 0 3
Center of Medical Genetics and Primary Health Care 0 0 1 0 2 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 1 0 0 0 3
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 0 0 2 1 0 0 0 3
Division of Medical Genetics, University of Washington 1 0 2 0 0 0 0 3
King Laboratory, University of Washington 1 0 0 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 1 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 0 2
Seelig Lab, University of Washington 0 0 0 0 0 0 2 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 0 1
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 0 0 1 0 0 0 0 1
Service de Génétique Médicale, Institut Central des Hôpitaux 0 0 1 0 0 0 0 1
Biologie des Tumeurs Solides, CHU de Montpellier 1 0 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 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 0 1
MNM Diagnostics 0 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 0 1
Molekularpathologisches Zentrum, Universitaetsklinikum Heidelberg 0 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 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.