ClinVar Miner

Variants studied for Lynch syndrome

Included ClinVar conditions (26):
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 not provided total
3446 1010 2627 999 477 86 7613

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH2 1071 306 543 191 113 17 1975
MSH6 952 198 438 231 127 22 1704
MLH1 1020 310 372 153 101 29 1679
MLH3 2 1 785 305 51 0 1098
PMS2 367 185 396 82 58 15 965
EPCAM 7 1 38 9 12 2 66
TGFBR2 4 1 37 7 0 0 49
LOC129933707, MSH6 2 5 3 5 3 0 14
LOC129933706, MSH6 0 0 3 3 3 0 8
EIF2B2, MLH3 0 0 0 6 2 0 6
FBXO11, MSH6 1 0 3 0 1 0 5
LOC129933695, MSH2 4 0 0 0 0 1 4
AIMP2, PMS2 0 0 0 0 3 0 3
EPCAM, MIR559 1 0 2 0 0 0 3
LOC129997916, PMS2 2 0 1 0 0 0 3
AREL1, MLH3 1 0 0 2 1 0 2
BCYRN1, EPCAM, MSH2 2 0 0 0 0 0 2
EPM2AIP1, MLH1 0 0 0 1 1 0 2
KCNK12, MSH2 0 0 1 1 0 0 2
LOC129933705, LOC129933706, LOC129933707, LOC129933708, MSH6 2 0 0 0 0 0 2
LOC129933706, LOC129933707, LOC129933708, MSH6 1 0 1 0 0 0 2
LRRFIP2, MLH1 1 0 0 0 1 0 2
PALB2 1 1 0 0 0 0 2
PMS1 0 0 1 1 0 0 2
RB1 1 1 0 0 0 0 2
AIMP2, CCZ1, EIF2AK1, OCM, PMS2, RSPH10B 1 0 0 0 0 0 1
ATM 0 1 0 0 0 0 1
BCYRN1, EPCAM, KCNK12, MSH2, MSH2-OT1 1 0 0 0 0 0 1
CHEK2 0 1 0 0 0 0 1
EPCAM, STPG4 0 0 0 1 0 0 1
EPM2AIP1, LOC115995508, LOC129936464, LOC129936465, LOC129936466, LOC129936467, LOC129936468, LOC129936469, LOC129936470, LOC129936471, MLH1, TRANK1 1 0 0 0 0 0 1
FBXO11, LOC129933706, LOC129933707, LOC129933708, MSH6 1 0 0 0 0 0 1
LOC129933706, LOC129933707, MSH6 0 0 1 0 0 0 1
LOC129933707, LOC129933708, MSH6 1 0 0 0 0 0 1
LOC129936399, TGFBR2 0 0 1 0 0 0 1
LOC129936471, MLH1 1 0 0 0 0 0 1
MUTYH 0 0 1 0 0 0 1
ORMDL1, PMS1 0 0 0 1 0 0 1
RAD51D, RAD51L3-RFFL 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 104
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myriad Genetics, Inc. 2450 531 264 195 175 0 3615
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 1197 197 38 100 182 0 1714
Invitae 88 8 748 276 47 0 1167
Baylor Genetics 176 121 636 0 0 0 933
Counsyl 63 48 474 192 21 0 798
Illumina Laboratory Services, Illumina 1 4 333 108 51 0 495
Mendelics 30 21 204 118 52 0 425
Fulgent Genetics, Fulgent Genetics 41 19 223 48 9 0 340
University of Washington Department of Laboratory Medicine, University of Washington 55 37 125 43 6 0 265
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 81 68 7 2 47 0 205
KCCC/NGS Laboratory, Kuwait Cancer Control Center 11 2 18 63 110 0 204
Department of Pathology and Laboratory Medicine, Sinai Health System 64 7 41 14 4 0 129
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 9 1 93 4 1 0 108
OMIM 70 0 8 0 0 0 78
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 60 15 0 0 0 1 76
MGZ Medical Genetics Center 24 15 27 0 0 0 66
Pathway Genomics 10 4 15 8 23 0 60
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 9 0 1 7 41 0 58
Institute of Human Genetics, University of Leipzig Medical Center 21 12 18 3 1 0 55
Genetics and Molecular Pathology, SA Pathology 31 11 6 2 2 0 52
Ding PR Lab, Sun Yat-sen University Cancer Center 9 14 29 0 0 0 52
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 9 0 1 12 29 0 51
GeneReviews 1 0 0 0 0 49 50
Center for Human Genetics, Inc, Center for Human Genetics, Inc 6 4 28 8 1 0 47
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 2 13 27 0 43
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 27 8 2 0 0 0 37
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 10 4 22 0 0 0 36
Human Genetics Bochum, Ruhr University Bochum 18 11 3 1 0 0 33
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 26 1 5 0 0 0 32
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 16 2 13 0 31
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 8 7 16 0 0 0 31
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 13 11 0 0 0 0 24
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 23 23
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 6 1 14 0 0 0 21
Division of Medical Genetics, University of Washington 5 0 15 0 0 0 20
Centre for Mendelian Genomics, University Medical Centre Ljubljana 11 5 3 0 0 0 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 4 0 0 8 5 0 17
CSER _CC_NCGL, University of Washington 1 3 8 3 1 0 16
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 7 2 7 0 0 0 16
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 14 1 0 0 0 0 15
Genetics and Personalized Medicine Clinic, Tartu University Hospital 2 13 0 0 0 0 15
GenomeConnect, ClinGen 0 0 0 0 0 14 14
deCODE genetics, Amgen 4 10 0 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 1 1 0 11
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 10 0 0 0 10
Johns Hopkins Genomics, Johns Hopkins University 2 0 2 4 0 0 8
Laboratory of Molecular and Cellular Biology, University of Science and Technology Houari Boumediene 6 1 1 0 0 0 8
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 1 0 0 3 0 5
IntelligeneCG 0 0 0 0 5 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 2 1 2 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 1 0 3 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 4 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 3 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 0 1 0 0 0 4
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 3 1 0 0 0 0 4
Centogene AG - the Rare Disease Company 0 1 2 0 0 0 3
MVZ Praenatalmedizin und Genetik Nuernberg 1 2 0 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 2 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 0 0 0 3
DASA 3 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 3 0 0 0 0 0 3
Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center 3 0 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 2
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 1 0 0 0 0 2
Service de Génétique Médicale, Institut Central des Hôpitaux 0 0 2 0 0 0 2
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 2 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 0 2 0 0 0 0 2
Cancer Genome Medicine, Jichi Medical University 2 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 0 1 0 0 0 0 1
Biologie des Tumeurs Solides, CHU de Montpellier 1 0 0 0 0 0 1
Department of Human Anatomy, Histology and Embryology;Department of Pathology, Peking University Health Science Center 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
MNM Diagnostics 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Genetica Molecular, Fundacion para el Progreso de la Medicina 0 1 0 0 0 0 1
Arcensus 0 1 0 0 0 0 1

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