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
1461 332 701 163 202 7 2764

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH2 550 107 159 42 51 3 880
MLH1 558 129 117 40 59 0 867
MSH6 242 58 238 54 50 2 624
PMS2 100 36 119 14 36 2 293
EPCAM 6 2 59 4 0 0 71
MLH3 0 0 6 1 0 0 7
EIF2B2, MLH3 0 0 0 6 0 0 6
AIMP2, PMS2 0 0 0 0 3 0 3
EPCAM, MIR559 1 0 2 0 0 0 3
FBXO11, MSH6 2 0 0 0 1 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, 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
TGFBR2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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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 143 19 306 12 7 0 487
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
Mendelics 15 10 171 8 2 0 206
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 60 13 0 0 0 1 74
Illumina Clinical Services Laboratory,Illumina 0 0 31 14 0 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
CSER _CC_NCGL, University of Washington 1 3 8 3 1 0 16
GenomeConnect, ClinGen 0 0 0 0 0 6 6
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

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