ClinVar Miner

Variants studied for Lynch syndrome 1

Included ClinVar conditions (6):
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
843 336 663 198 110 52 1970

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH2 778 280 607 181 86 13 1723
MLH1 40 33 21 5 11 23 129
MSH6 12 13 12 6 3 8 53
PMS2 6 5 12 3 8 6 36
EPCAM 0 1 6 0 1 1 9
PMS1 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
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
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. 703 187 58 74 44 0 1066
Baylor Genetics 66 41 380 0 0 0 487
Counsyl 19 6 137 52 0 0 214
Fulgent Genetics, Fulgent Genetics 15 8 66 13 2 0 104
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 26 25 21 0 88
Pathway Genomics 10 4 15 8 23 0 60
Ding PR Lab, Sun Yat-sen University Cancer Center 9 14 29 0 0 0 52
GeneReviews 1 0 0 0 0 49 50
KCCC/NGS Laboratory, Kuwait Cancer Control Center 7 2 4 17 20 0 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 11 0 0 0 20
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
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
Institute of Human Genetics, University of Leipzig Medical Center 6 5 2 1 1 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
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 0 2 0 0 0 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 5 0 0 0 7
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
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
Institute of Immunology and Genetics Kaiserslautern 2 2 0 0 0 0 4
IntelligeneCG 0 0 0 0 3 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 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
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 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
MNM Diagnostics 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 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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