ClinVar Miner

Variants studied for Lynch syndrome 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
884 349 673 516 840 49 2980

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH2 805 291 610 499 814 10 2708
MLH1 44 34 22 5 11 23 135
MSH6 20 13 11 6 3 8 60
PMS2 7 5 12 3 8 6 37
EPCAM 0 1 6 0 1 1 9
PMS1 0 0 5 1 2 0 8
MLH3 0 0 2 1 0 0 3
BCYRN1, EPCAM, MSH2 2 0 0 0 0 0 2
KCNK12, MSH2 0 0 1 1 0 0 2
LOC129933695, MSH2 2 0 0 0 0 1 2
PALB2 1 1 0 0 0 0 2
PCK1 0 0 2 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
CTSA 1 0 0 0 0 0 1
EPCAM, LOC129933695, MSH2 0 1 0 0 0 0 1
FBXO11, MSH6 0 0 1 0 0 0 1
MUTYH 0 0 1 0 0 0 1
NPHP4 0 0 0 0 1 0 1
RAD51D, RAD51L3-RFFL 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 79
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myriad Genetics, Inc. 720 189 55 391 788 0 2143
Baylor Genetics 66 41 380 0 0 0 487
Counsyl 19 6 137 52 0 0 214
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 37 24 15 11 9 0 96
Illumina Laboratory Services, Illumina 0 0 64 22 5 0 91
Mendelics 11 5 24 25 21 0 86
Molecular Pathology, Peter Maccallum Cancer Centre 20 3 32 13 1 0 69
Pathway Genomics 10 4 15 8 23 0 60
KCCC/NGS Laboratory, Kuwait Cancer Control Center 7 2 4 17 23 0 53
Ding PR Lab, Sun Yat-sen University Cancer Center 9 14 29 0 0 0 52
GeneReviews 1 0 0 0 0 49 50
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 25 1 0 0 26
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 13 11 0 0 0 0 24
Neuberg Centre For Genomic Medicine, NCGM 6 4 14 0 0 0 24
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 2 11 0 2 0 19
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 0 4 11 0 18
Human Genetics Bochum, Ruhr University Bochum 9 5 2 1 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 6 7 2 1 1 0 17
Institute of Immunology and Genetics Kaiserslautern 15 1 1 0 0 0 17
OMIM 17 0 0 0 0 0 17
Genetics and Molecular Pathology, SA Pathology 10 2 2 1 0 0 15
Genetics and Personalized Medicine Clinic, Tartu University Hospital 2 13 0 0 0 0 15
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 1 4 9 0 15
MGZ Medical Genetics Center 5 3 7 0 0 0 15
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 10 1 0 0 12
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 7 3 2 0 0 0 12
University of Washington Department of Laboratory Medicine, University of Washington 1 9 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 2 5 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 2 4 0 0 0 9
Division of Medical Genetics, University of Washington 1 0 7 0 0 0 8
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 6 1 1 0 0 0 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 5 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 1 2 0 6
Department of Human Genetics, Hannover Medical School 4 1 0 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 5 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 0 0 0 0 0 4
MVZ Medizinische Genetik Mainz 3 0 1 0 0 0 4
deCODE genetics, Amgen 2 2 0 0 0 0 4
Cancer Genome Medicine, Jichi Medical University 2 0 0 0 1 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 0 0 0 3
Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center 3 0 0 0 0 0 3
IntelligeneCG 0 0 0 0 3 0 3
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 2 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 0 0 0 2
Genesis Genomics 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 1 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 0 2 0 0 0 0 2
Laboratory of Human Molecular Genetics, Federal University of Alagoas 1 1 0 0 0 0 2
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Variantyx, Inc. 2 0 0 0 0 0 2
3billion 1 0 0 0 0 0 1
Biologie des Tumeurs Solides, CHU de Montpellier 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Biotechnology, Institute of Science, Nirma University 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
Genetica Molecular, Fundacion para el Progreso de la Medicina 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 1
MNM Diagnostics 0 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Molecular Oncology, Hospital Universitario Central de Asturias (HUCA) 1 0 0 0 0 0 1

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