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
863 298 1270 693 151 1 40 2883

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary cancer-predisposing syndrome 220 84 744 437 45 0 0 1467
Hereditary nonpolyposis colon cancer 244 76 665 220 60 0 0 1265
Lynch syndrome 558 130 127 40 59 0 0 873
not provided 156 59 290 140 33 0 22 668
not specified 1 2 113 233 64 0 17 369
Lynch syndrome II 51 28 151 88 24 0 1 303
Lynch syndrome I 30 28 21 5 10 0 0 93
Turcot syndrome; Muir-Torré syndrome; Lynch syndrome II 6 4 26 1 0 0 0 37
Hereditary breast and ovarian cancer syndrome 0 1 12 0 0 0 0 13
Colorectal cancer, non-polyposis 0 0 7 1 0 0 0 8
Turcot syndrome 8 0 0 0 0 0 0 8
Colon cancer 7 0 0 0 0 0 0 7
Carcinoma of colon 2 0 0 0 0 0 0 2
Adenocarcinoma of stomach 0 1 0 0 0 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
Endometrial carcinoma 0 0 0 1 0 0 0 1
Familial cancer of breast 0 0 1 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
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: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 280 81 709 305 71 0 0 1446
Ambry Genetics 206 70 610 251 23 0 0 1160
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 500 96 19 31 53 0 0 699
GeneDx 129 26 230 205 48 0 1 639
Color 36 16 277 255 32 0 0 616
Integrated Genetics/Laboratory Corporation of America 31 27 76 38 17 0 0 189
Quest Diagnostics Nichols Institute San Juan Capistrano 35 17 76 29 15 0 0 168
Counsyl 17 14 79 49 4 0 0 163
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
Mendelics 5 6 41 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
PreventionGenetics,PreventionGenetics 3 1 14 17 18 0 0 53
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
OMIM 29 0 3 0 0 1 0 33
CeGaT Praxis fuer Humangenetik Tuebingen 3 3 15 10 0 0 0 31
Ding PR Lab,Sun Yat-sen University Cancer Center 9 14 8 0 0 0 0 31
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 2 6 1 13 0 0 26
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
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
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 0 12 0 0 0 0 12
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 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 2 0 0 0 0 5
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 2 1 0 0 0 0 0 3
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
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 3 0 0 3
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
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
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
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 0 0 1
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig 1 0 0 0 0 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
Department of Molecular Diagnostics,Institute of Oncology 0 1 0 0 0 0 0 1
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 1 0 0 0 0 0 0 1
Service de Génétique Médicale,Institut Central des Hôpitaux 0 0 1 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
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

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