ClinVar Miner

Variants studied for Lynch syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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
1344 304 444 171 199 11 2399

Gene and significance breakdown #

Total genes and gene combinations: 26
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MLH1 527 120 86 40 55 0 806
MSH2 513 98 106 42 51 4 790
MSH6 203 55 156 57 47 5 505
PMS2 83 33 67 16 36 2 227
EPCAM 4 0 16 4 0 0 24
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
LOC129933707, MSH6 0 0 0 1 1 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: 25
Download table as spreadsheet
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
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 81 69 7 2 47 0 206
Mendelics 15 10 139 8 2 0 174
Invitae 88 8 42 6 0 0 144
Department of Pathology and Laboratory Medicine, Sinai Health System 64 7 40 14 4 0 128
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 60 15 0 0 0 1 76
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
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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.