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
1563 415 2075 715 231 5 4680

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 576 123 532 153 56 2 1354
MLH1 594 160 450 138 63 1 1302
MSH6 259 80 632 237 53 1 1186
PMS2 112 48 276 99 44 1 531
EPCAM 9 2 89 44 9 0 147
MLH3 3 1 54 24 0 0 81
PMS1 0 0 20 9 0 0 29
TGFBR2 4 0 10 0 0 0 14
ORMDL1, PMS1 0 0 6 4 0 0 10
EIF2B2, MLH3 0 0 0 6 0 0 6
AIMP2, PMS2 0 0 2 0 3 0 5
FBXO11, MSH6 2 0 2 0 1 0 5
EPCAM, MIR559 1 0 2 0 0 0 3
LRRFIP2, MLH1 1 0 0 0 1 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
EPCAM, STPG4 0 0 0 1 0 0 1
EPM2AIP1, MLH1 0 0 0 0 1 0 1
EPM2AIP1, MLH1, TRANK1 1 0 0 0 0 0 1
RAD51D, RAD51L3-RFFL 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 1196 201 747 99 182 0 2425
Invitae 188 31 531 275 20 0 1045
Counsyl 63 48 474 192 21 0 798
Illumina Clinical Services Laboratory,Illumina 0 4 192 113 0 0 309
University of Washington Department of Laboratory Medicine,University of Washington 54 27 128 41 6 0 256
Integrated Genetics/Laboratory Corporation of America 112 84 8 4 47 0 255
Department of Pathology and Laboratory Medicine,Sinai Health System 207 27 19 0 0 0 253
Mendelics 15 10 176 8 2 0 211
Fulgent Genetics 25 5 111 2 0 0 143
OMIM 67 0 8 0 0 0 75
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 47 4 0 0 0 1 52
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 Medical Center 1 3 8 3 1 0 16
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 10 0 0 0 10
HudsonAlpha Institute for Biotechnology 5 0 0 0 0 0 5
IntelligeneCG 0 0 0 0 5 0 5
Department of Molecular Diagnostics,Institute of Oncology 0 5 0 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
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
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 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
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

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