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
826 315 528 186 108 49 1802

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH2 763 260 475 169 86 10 1563
MLH1 40 33 21 5 10 23 128
MSH6 10 12 12 6 3 8 50
PMS2 6 5 12 3 8 6 36
EPCAM 0 1 5 0 1 1 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
PALB2 1 1 0 0 0 0 2
PMS1 0 0 1 1 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
MLH3 0 0 0 1 0 0 1
MUTYH 0 0 1 0 0 0 1
RAD51D, RAD51L3-RFFL 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myriad Genetics, Inc. 694 185 61 67 44 0 1051
Baylor Genetics 59 35 257 0 0 0 351
Counsyl 19 6 137 52 0 0 214
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 37 24 15 11 9 0 96
Mendelics 11 5 30 25 21 0 92
Illumina Laboratory Services, Illumina 0 0 64 22 5 0 91
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 6 2 4 17 20 0 49
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 13 11 0 0 0 0 24
OMIM 18 0 0 0 0 0 18
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 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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 15 0 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 6 3 2 1 1 0 13
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 10 1 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 7 0 1 0 10
Neuberg Centre For Genomic Medicine, NCGM 3 3 4 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
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
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
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
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 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
Cancer Genome Medicine, Jichi Medical University 2 0 0 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 2 0 0 0 0 0 2
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
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 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
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
MNM Diagnostics 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Genetica Molecular, Fundacion para el Progreso de la Medicina 0 1 0 0 0 0 1

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