ClinVar Miner

Variants studied for Lynch syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
1485 418 2484 1099 224 12 5560

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH6 263 106 967 449 52 5 1785
MSH2 526 114 644 249 58 4 1558
MLH1 554 128 408 189 60 0 1298
PMS2 122 67 435 201 41 3 841
EPCAM 4 0 14 4 0 0 22
LOC129933707, MSH6 1 3 8 5 1 0 18
LOC129933695, MSH2 5 0 0 0 0 0 5
FBXO11, MSH6 1 0 0 1 2 0 4
AIMP2, PMS2 0 0 0 0 3 0 3
EPCAM, MIR559 1 0 2 0 0 0 3
LOC129933706, MSH6 0 0 0 0 3 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
RPS20 0 0 0 0 2 0 2
CDH1 0 1 0 0 0 0 1
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
MLH3 0 0 1 0 0 0 1
NF1 0 1 0 0 0 0 1
PMS1 0 0 1 0 0 0 1
TGFBR2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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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
Department of Pathology and Laboratory Medicine, Sinai Health System 83 9 177 89 10 0 367
University of Washington Department of Laboratory Medicine, University of Washington 53 27 123 41 6 0 250
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 112 82 1 0 0 1 196
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 71 61 5 2 47 0 186
Labcorp Genetics (formerly Invitae), Labcorp 88 8 42 6 0 0 144
Mendelics 13 1 84 0 0 0 98
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 22 22 3 4 0 0 51
GeneKor MSA 20 7 0 0 24 0 51
Clinical and Functional Genomics Group, A.C.Camargo Cancer Center 27 1 5 0 0 0 33
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 10 10
Clinical Genetics Laboratory, Skane University Hospital Lund 4 3 0 0 0 0 7
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital and Chulalongkorn University, Chulalongkorn University 0 0 4 0 0 0 4
CHARM Consortium 0 2 0 0 0 1 3
Dasa 3 0 0 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 2 1 0 0 0 3
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 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
Service de Génétique Médicale, Institut Central des Hôpitaux 0 0 2 0 0 0 2
Clinical Genetics Lab, Heritas 0 1 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
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 0 0 0 1
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1

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