ClinVar Miner

Variants studied for Lynch syndrome 1

Coded as:
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
848 336 643 505 838 49 2906

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH2 780 280 584 488 812 10 2651
MLH1 40 33 21 5 11 23 129
MSH6 14 13 11 6 3 8 54
PMS2 7 5 12 3 8 6 37
EPCAM 0 1 6 0 1 1 9
PMS1 0 0 5 1 2 0 8
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
MLH3 0 0 1 1 0 0 2
PALB2 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
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: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myriad Genetics, Inc. 711 188 56 388 786 0 2129
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 25 25 21 0 87
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
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 13 11 0 0 0 0 24
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 21 0 0 0 21
Neuberg Centre For Genomic Medicine, NCGM 5 4 12 0 0 0 21
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 0 4 11 0 18
OMIM 17 0 0 0 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 6 7 2 1 1 0 17
Human Genetics Bochum, Ruhr University Bochum 8 5 2 1 0 0 16
MGZ Medical Genetics Center 5 3 7 0 0 0 15
Genetics and Personalized Medicine Clinic, Tartu University Hospital 2 13 0 0 0 0 15
Genetics and Molecular Pathology, SA Pathology 10 2 2 1 0 0 15
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 1 4 9 0 15
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 10 1 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 7 0 2 0 12
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 6 2 2 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 5 0 0 0 5
University of Washington Department of Laboratory Medicine, University of Washington 1 4 0 0 0 0 5
Institute of Immunology and Genetics Kaiserslautern 4 1 0 0 0 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 0 0 4
deCODE genetics, Amgen 2 2 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 3 1 0 0 0 0 4
IntelligeneCG 0 0 0 0 3 0 3
Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center 3 0 0 0 0 0 3
Cancer Genome Medicine, Jichi Medical University 2 0 0 0 1 0 3
MVZ Medizinische Genetik Mainz 2 0 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 1 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 0 0 0 2
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 1 0 0 2
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 2 0 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 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
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Biologie des Tumeurs Solides, CHU de Montpellier 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
MNM Diagnostics 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 1
Genetica Molecular, Fundacion para el Progreso de la Medicina 0 1 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 0 0 0 1

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