ClinVar Miner

Variants studied for Lynch syndrome

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
1469 335 963 267 202 6 3083

Gene and significance breakdown #

Total genes and gene combinations: 19
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH2 554 106 212 56 51 3 933
MLH1 558 132 147 47 59 0 896
MSH6 246 59 287 71 50 1 681
PMS2 100 36 154 32 36 2 331
EPCAM 6 2 86 17 0 0 110
MLH3 0 0 47 23 0 0 70
PMS1 0 0 23 9 0 0 32
ORMDL1, PMS1 0 0 3 4 0 0 7
EIF2B2, MLH3 0 0 0 6 0 0 6
FBXO11, MSH6 2 0 1 0 1 0 4
AIMP2, PMS2 0 0 0 0 3 0 3
EPCAM, MIR559 1 0 2 0 0 0 3
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 0 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
LRRFIP2, MLH1 0 0 0 0 1 0 1
TGFBR2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 1160 173 23 89 173 0 1618
Invitae 164 25 415 21 7 0 632
Illumina Clinical Services Laboratory,Illumina 0 0 191 113 0 0 304
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
Mendelics 15 10 175 8 2 0 210
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 59 11 0 0 0 1 71
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
CSER _CC_NCGL, University of Washington 1 3 8 3 1 0 16
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Service de Génétique Médicale,Institut Central des Hôpitaux 0 0 2 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 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
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.