ClinVar Miner

Variants in gene MLH1

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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 risk factor not provided total
984 328 1558 828 163 1 40 3387

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary nonpolyposis colorectal neoplasms 370 94 935 319 65 0 0 1783
Hereditary cancer-predisposing syndrome 237 97 828 556 55 0 0 1698
Lynch syndrome 540 124 121 41 60 0 0 859
not provided 183 63 358 155 35 0 22 759
not specified 1 2 145 237 71 0 17 410
Lynch syndrome II 56 32 155 88 24 0 1 316
Lynch syndrome I 36 29 21 5 10 0 0 100
Carcinoma of colon 42 13 13 8 4 0 0 80
Lynch-like syndrome 46 7 5 0 0 0 0 58
Turcot syndrome; Muir-Torré syndrome; Lynch syndrome II 6 4 26 1 0 0 0 37
Hereditary nonpolyposis colon cancer 20 6 2 0 0 0 0 28
Malignant tumor of breast 0 0 10 10 4 0 0 24
Hereditary breast and ovarian cancer syndrome 0 2 12 0 0 0 0 14
none provided 0 0 3 3 6 0 0 12
Endometrial carcinoma 4 0 2 2 1 0 0 9
Turcot syndrome 9 0 0 0 0 0 0 9
Colorectal cancer, non-polyposis 0 0 7 1 0 0 0 8
Malignant tumor of colon 7 0 0 0 0 0 0 7
Breast and/or ovarian cancer 4 0 0 0 0 0 0 4
Breast carcinoma 0 0 1 1 0 0 0 2
Muir-Torré syndrome 1 0 1 0 0 0 0 2
Adenocarcinoma of stomach 0 1 0 0 0 0 0 1
Bile duct cancer 0 0 0 0 1 0 0 1
Breast-ovarian cancer, familial 1 0 0 1 0 0 0 0 1
Colorectal cancer, sporadic, susceptibility to 0 0 0 0 0 1 0 1
Duchenne muscular dystrophy 0 0 1 0 0 0 0 1
Familial cancer of breast 0 0 1 0 0 0 0 1
Familial colorectal cancer 0 0 1 0 0 0 0 1
Familial colorectal cancer; Lynch syndrome 1 0 0 0 0 0 0 1
Global developmental delay; Choreoathetosis; Aqueductal stenosis 0 0 1 0 0 0 0 1
Lung adenocarcinoma 0 1 0 0 0 0 0 1
Ovarian cancer 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 395 98 953 367 76 0 0 1887
Ambry Genetics 212 67 600 260 24 0 0 1163
Color Health, Inc 59 37 444 395 42 0 0 977
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 500 96 19 31 53 0 0 699
GeneDx 129 26 230 205 48 0 1 639
Integrated Genetics/Laboratory Corporation of America 50 30 115 50 22 0 0 267
Department of Pathology and Laboratory Medicine,Sinai Health System 89 18 110 32 16 0 0 264
Quest Diagnostics Nichols Institute San Juan Capistrano 48 20 86 37 18 0 0 205
Counsyl 17 14 79 49 4 0 0 163
Mayo Clinic Laboratories, Mayo Clinic 35 12 26 14 23 0 0 110
Mendelics 5 6 40 34 12 0 0 97
University of Washington Department of Laboratory Medicine, University of Washington 19 9 30 24 0 0 0 82
Illumina Clinical Services Laboratory,Illumina 0 0 55 15 5 0 0 75
Constitutional Genetics Lab,Leon Berard Cancer Center 46 7 5 0 0 0 0 58
PreventionGenetics, PreventionGenetics 3 1 14 17 18 0 0 53
CeGaT Praxis fuer Humangenetik Tuebingen 4 3 21 16 0 0 0 44
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 6 0 25 5 6 0 0 42
Fulgent Genetics,Fulgent Genetics 6 3 26 1 0 0 0 36
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 4 2 9 5 14 0 0 34
OMIM 29 0 3 0 0 1 0 33
Ding PR Lab,Sun Yat-sen University Cancer Center 9 14 8 0 0 0 0 31
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 3 5 13 0 0 23
True Health Diagnostics 0 0 7 11 2 0 0 20
ITMI 0 0 0 0 0 0 17 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 Karolinska University Hospital,Karolinska University Hospital 15 1 0 0 0 0 0 16
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 8 0 6 0 0 14
GeneKor MSA 1 4 8 1 0 0 0 14
Harris Lab, University of Minnesota 0 0 0 0 0 0 12 12
Institute of Human Genetics, University of Leipzig Medical Center 3 2 5 2 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 1 2 6 0 0 11
Genetic Services Laboratory, University of Chicago 1 0 1 7 1 0 0 10
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
Baylor Genetics 1 0 5 0 0 0 0 6
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 2 0 0 0 0 5
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 2 2 0 0 0 0 5
CZECANCA consortium 4 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 0 3
Vantari Genetics 0 0 1 0 2 0 0 3
Center of Medical Genetics and Primary Health Care 0 0 1 0 2 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 3 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 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 2 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 1 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
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
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 0 1 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
IntelligeneCG 0 0 0 0 1 0 0 1
CHLA 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
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
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 0 1
MNM Diagnostics 0 1 0 0 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 1 0 0 0 0 0 1

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