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
767 248 1148 606 136 1 39 2543

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Lynch syndrome 558 132 380 90 61 0 0 1154
Hereditary cancer-predisposing syndrome 152 58 555 381 44 0 0 1139
Hereditary nonpolyposis colon cancer 144 49 416 158 58 0 0 825
not provided 146 60 286 34 18 0 21 536
not specified 0 1 111 223 63 0 17 358
Lynch syndrome II 49 19 91 53 13 0 1 216
Lynch syndrome I 23 17 20 5 10 0 0 75
Turcot syndrome; Muir-Torré syndrome; Lynch syndrome II 6 4 26 1 0 0 0 37
Turcot syndrome 9 0 0 0 0 0 0 9
Colorectal cancer, non-polyposis 0 0 7 1 0 0 0 8
Colon cancer 6 0 0 0 0 0 0 6
Carcinoma of colon 2 0 0 0 0 0 0 2
Adenocarcinoma of stomach 0 1 0 0 0 0 0 1
Colorectal cancer, sporadic, susceptibility to 0 0 0 0 0 1 0 1
Endometrial carcinoma 0 0 0 1 0 0 0 1
Global developmental delay; Choreoathetosis; Aqueductal stenosis 0 0 1 0 0 0 0 1
Hereditary breast and ovarian cancer syndrome 0 1 0 0 0 0 0 1
Lung adenocarcinoma 0 1 0 0 0 0 0 1
Muir-Torré syndrome 1 0 0 0 0 0 0 1
Ovarian cancer 0 0 1 0 0 0 0 1
Papillary renal cell carcinoma 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 189 56 486 202 66 0 0 999
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 500 98 270 31 53 0 0 952
Ambry Genetics 137 45 395 186 21 0 0 784
Color 36 16 277 255 32 0 0 616
GeneDx 125 28 230 191 40 0 1 615
Integrated Genetics/Laboratory Corporation of America 30 28 96 19 16 0 0 189
Counsyl 17 14 79 49 4 0 0 163
Quest Diagnostics Nichols Institute San Juan Capistrano 22 17 53 24 13 0 0 125
Department of Pathology and Laboratory Medicine,Sinai Health System 68 12 18 9 15 0 0 122
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 35 12 26 14 23 0 0 110
University of Washington Department of Laboratory Medicine,University of Washington 19 9 30 24 0 0 0 82
PreventionGenetics 3 1 14 17 18 0 0 53
Mendelics 5 4 31 3 0 0 0 43
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 6 0 24 5 6 0 0 41
Fulgent Genetics 6 3 26 1 0 0 0 36
OMIM 29 0 3 0 0 1 0 33
Illumina Clinical Services Laboratory,Illumina 0 0 16 11 0 0 0 27
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 1 5 1 7 0 0 17
ITMI 0 0 0 0 0 0 17 17
Center for Human Genetics, Inc 3 3 7 2 1 0 0 16
Pathway Genomics 3 0 3 3 7 0 0 16
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 12 1 2 0 0 0 0 15
Biesecker Lab/Human Development 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
CSER_CC_NCGL; University of Washington Medical Center 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 8 0 0 0 10
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 4 1 3 0 0 8
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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 2 1 0 0 0 0 0 3
Vantari Genetics 0 0 1 0 2 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 2 0 0 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 3 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 2 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 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
HudsonAlpha Institute for Biotechnology 1 0 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
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 0 1
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 1 0 0 0 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 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

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