ClinVar Miner

Variants studied for Lynch syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
1423 382 2042 915 213 11 4862

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH6 240 82 769 366 51 5 1478
MSH2 517 112 549 208 55 4 1412
MLH1 540 128 363 162 58 0 1211
PMS2 107 60 324 159 39 2 675
EPCAM 4 0 16 4 0 0 24
LOC129933707, MSH6 1 2 8 5 1 0 17
MLH3 0 0 6 1 0 0 7
EIF2B2, MLH3 0 0 0 6 0 0 6
LOC129933695, MSH2 4 0 0 0 0 0 4
LOC129933706, MSH6 0 0 1 1 3 0 4
AIMP2, PMS2 0 0 0 0 3 0 3
EPCAM, MIR559 1 0 2 0 0 0 3
LOC129997916, PMS2 2 0 1 0 0 0 3
EPM2AIP1, MLH1 0 0 0 1 1 0 2
FBXO11, MSH6 1 0 0 0 1 0 2
LOC129933705, LOC129933706, LOC129933707, LOC129933708, MSH6 2 0 0 0 0 0 2
LOC129933706, LOC129933707, LOC129933708, MSH6 1 0 1 0 0 0 2
EPCAM, STPG4 0 0 0 1 0 0 1
EPM2AIP1, LOC115995508, LOC129936464, LOC129936465, LOC129936466, LOC129936467, LOC129936468, LOC129936469, LOC129936470, LOC129936471, MLH1, TRANK1 1 0 0 0 0 0 1
FBXO11, LOC129933706, LOC129933707, LOC129933708, MSH6 1 0 0 0 0 0 1
LOC129933706, LOC129933707, MSH6 0 0 1 0 0 0 1
LOC129933707, LOC129933708, MSH6 1 0 0 0 0 0 1
LOC129936471, MLH1 1 0 0 0 0 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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
All of Us Research Program, National Institutes of Health 136 33 1753 765 26 0 2713
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 1160 173 23 89 173 0 1618
University of Washington Department of Laboratory Medicine, University of Washington 53 27 125 41 6 0 252
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 80 68 7 2 47 0 204
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 112 82 1 0 0 1 196
Invitae 88 8 42 6 0 0 144
Department of Pathology and Laboratory Medicine, Sinai Health System 64 7 40 14 4 0 128
Mendelics 12 1 90 0 0 0 103
Illumina Laboratory Services, 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 16 2 13 0 31
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 26 3 1 0 31
CSER _CC_NCGL, University of Washington 1 3 8 3 1 0 16
Genetics and Molecular Pathology, SA Pathology 5 5 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 9 9
GeneID Lab - Advanced Molecular Diagnostics 0 2 1 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 1 0 0 0 0 2
Service de Génétique Médicale, Institut Central des Hôpitaux 0 0 2 0 0 0 2
DASA 2 0 0 0 0 0 2
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 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
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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