ClinVar Miner

Variants studied for Lynch syndrome

Included ClinVar conditions (17):
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
1561 443 1746 547 297 10 4253

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH2 579 126 368 117 64 3 1169
MLH1 593 176 257 112 69 1 1106
MSH6 259 83 454 161 60 3 952
PMS2 108 53 255 60 47 2 470
MLH3 2 1 331 83 45 0 428
EPCAM 9 2 65 4 3 1 84
TGFBR2 4 0 10 0 0 0 14
EIF2B2, MLH3 0 0 0 6 2 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
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 1 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
LRRFIP2, MLH1 0 0 0 0 1 0 1
ORMDL1, PMS1 0 0 0 1 0 0 1
RAD51D, RAD51L3-RFFL 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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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
Invitae 143 19 554 60 45 0 821
Counsyl 63 48 474 192 21 0 798
Illumina Clinical Services Laboratory,Illumina 0 4 333 108 51 0 494
Mendelics 25 19 247 117 40 0 448
Integrated Genetics/Laboratory Corporation of America 117 84 7 3 47 0 258
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 70 0 8 0 0 0 78
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 60 13 0 0 0 1 74
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
Ding PR Lab,Sun Yat-sen University Cancer Center 9 14 29 0 0 0 52
Center for Human Genetics, Inc,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
Institute of Human Genetics, University of Leipzig Medical Center 6 3 7 0 0 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 9 9
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 7 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 2 0 0 0 6
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
Division of Medical Genetics, University of Washington 2 0 2 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 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
PreventionGenetics,PreventionGenetics 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 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
Johns Hopkins Genomics,Johns Hopkins University 1 0 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
MNM Diagnostics 0 1 0 0 0 0 1

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