ClinVar Miner

Variants studied for Lynch syndrome

Coded as:
Minimum submission review status: Collection method:
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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
1475 334 1679 520 212 4 4024

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH2 555 108 431 102 52 2 1192
MLH1 558 132 380 90 61 0 1154
MSH6 245 56 503 162 50 1 977
PMS2 105 36 196 78 37 1 422
EPCAM 7 2 89 44 6 0 144
MLH3 0 0 47 24 0 0 71
PMS1 0 0 20 9 0 0 29
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
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
LRRFIP2, MLH1 0 0 0 0 1 0 1
TGFBR2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 1156 170 714 88 173 0 2301
Invitae 188 31 531 275 20 0 1045
Illumina Clinical Services Laboratory,Illumina 0 0 191 113 0 0 304
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 10 175 8 2 0 210
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 47 4 0 0 0 1 52
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 Medical Center 1 3 8 3 1 0 16
GenomeConnect, ClinGen 0 0 0 0 0 3 3
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

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