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
1459 408 2429 1075 216 11 5453

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 259 100 939 430 51 5 1736
MSH2 522 113 645 244 57 4 1548
MLH1 541 128 410 190 58 0 1286
PMS2 118 66 398 191 39 2 795
EPCAM 4 0 16 4 0 0 24
LOC129933707, MSH6 1 3 8 5 1 0 18
MLH3 0 0 6 1 0 0 7
EIF2B2, MLH3 0 0 0 6 0 0 6
FBXO11, MSH6 1 0 0 1 2 0 4
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
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
EPM2AIP1, MLH1 0 0 0 0 1 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: 27
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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 187 47 2157 933 33 0 3357
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 77 65 6 2 47 0 197
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 112 82 1 0 0 1 196
Labcorp Genetics (formerly Invitae), Labcorp 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 87 0 0 0 100
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 22 21 0 2 0 0 45
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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 6 7 0 0 0 0 13
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
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
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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