ClinVar Miner

Variants studied for Lynch syndrome

Included ClinVar conditions (18):
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
1571 425 1497 532 246 8 3977

Gene and significance breakdown #

Total genes and gene combinations: 22
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH2 584 122 362 118 64 3 1170
MLH1 593 162 245 114 69 1 1089
MSH6 263 83 452 173 60 2 965
PMS2 108 53 256 65 44 2 476
EPCAM 9 2 86 17 3 0 114
MLH3 2 1 54 23 0 0 80
PMS1 0 0 23 9 0 0 32
TGFBR2 4 0 10 0 0 0 14
ORMDL1, PMS1 0 0 3 4 0 0 7
EIF2B2, MLH3 0 0 0 6 0 0 6
FBXO11, MSH6 2 0 3 0 1 0 6
AIMP2, PMS2 0 0 0 0 3 0 3
EPCAM, MIR559 1 0 2 0 0 0 3
KCNK12, MSH2 0 0 1 1 0 0 2
LRRFIP2, MLH1 1 0 0 0 1 0 2
RB1 1 1 0 0 0 0 2
ABCG5, ABCG8, ARHGEF33, ATL2, ATP6V1E2, BCYRN1, C2orf91, CALM2, CAMKMT, CDKL4, COX7A2L, CRIPT, CYP1B1, DHX57, DYNC2LI1, EML4, EPAS1, EPCAM, GALM, GEMIN6, HAAO, HNRNPLL, KCNG3, LRPPRC, MAP4K3, MCFD2, MORN2, MSH2, MTA3, OXER1, PIGF, PKDCC, PLEKHH2, PPM1B, PREPL, PRKCE, RHOQ, RMDN2, SIX2, SIX3, SLC3A1, SLC8A1, SOCS5, SOS1, SOS1-IT1, SRBD1, SRSF7, STPG4, THADA, THUMPD2, TMEM178A, TMEM247, TTC7A, ZFP36L2 1 0 0 0 0 0 1
AREL1, MLH3 1 0 0 1 0 0 1
EPCAM, STPG4 0 0 0 1 0 0 1
EPM2AIP1, LOC115995508, MLH1, TRANK1 1 0 0 0 0 0 1
EPM2AIP1, MLH1 0 0 0 0 1 0 1
RAD51D, RAD51L3-RFFL 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 1197 197 38 100 182 0 1714
Counsyl 63 48 474 192 21 0 798
Invitae 164 25 415 21 7 0 632
Mendelics 25 20 250 117 40 0 448
Illumina Clinical Services Laboratory,Illumina 0 4 192 113 0 0 309
Integrated Genetics/Laboratory Corporation of America 113 84 8 4 47 0 256
University of Washington Department of Laboratory Medicine, University of Washington 54 27 128 41 6 0 256
Department of Pathology and Laboratory Medicine,Sinai Health System 207 27 19 0 0 0 253
Fulgent Genetics,Fulgent Genetics 25 5 111 2 0 0 143
OMIM 73 0 8 0 0 0 81
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 59 11 0 0 0 1 71
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 9 0 4 7 41 0 61
Pathway Genomics 10 4 15 8 23 0 60
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 9 0 2 12 30 0 53
Center for Human Genetics, Inc 6 4 28 8 1 0 47
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 3 13 28 0 45
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 26 1 5 0 0 0 32
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 16 2 13 0 31
Genome Diagnostics Laboratory,University Medical Center Utrecht 4 0 1 8 5 0 18
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 13 4 0 0 0 0 17
CSER _CC_NCGL, University of Washington 1 3 8 3 1 0 16
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 11 1 0 0 0 0 12
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 10 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Department of Molecular Diagnostics,Institute of Oncology 0 7 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 2 0 0 0 5
IntelligeneCG 0 0 0 0 5 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 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 Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 1 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 0 0 2
Service de Génétique Médicale,Institut Central des Hôpitaux 0 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
PreventionGenetics,PreventionGenetics 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 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,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 1 0 0 0 1
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.