ClinVar Miner

Variants studied for Lynch syndrome 1

Included ClinVar conditions (2):
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 total
117 69 303 109 54 601

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MSH2 67 29 253 94 32 428
MLH1 36 29 21 5 10 100
MSH6 10 7 10 6 3 36
PMS2 4 3 12 3 8 27
EPCAM 0 0 5 0 1 6
KCNK12, MSH2 0 0 1 1 0 2
PMS1 0 0 1 0 0 1
RAD51D, RAD51L3-RFFL 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 19 6 137 52 0 214
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 37 24 15 11 9 96
Illumina Clinical Services Laboratory,Illumina 0 0 64 22 5 91
Mendelics 6 4 41 23 15 89
Pathway Genomics 10 4 15 8 23 60
Ding PR Lab,Sun Yat-sen University Cancer Center 9 14 29 0 0 52
Fulgent Genetics,Fulgent Genetics 7 0 17 0 0 24
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 13 11 0 0 0 24
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 3 0 1 4 11 19
OMIM 18 0 0 0 0 18
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 2 4 9 16
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 10 1 0 12
Institute of Human Genetics, University of Leipzig Medical Center 2 2 3 1 1 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 2 5 9
Division of Medical Genetics, University of Washington 1 0 7 0 0 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 5 0 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 0 0 0 0 4
IntelligeneCG 0 0 0 0 3 3
University of Washington Department of Laboratory Medicine, University of Washington 0 3 0 0 0 3
Clinical Genetics laboratory, University of Goettingen 0 0 2 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 1 0 0 0 1
Biologie des Tumeurs Solides,CHU de Montpellier 1 0 0 0 0 1
MNM Diagnostics 0 1 0 0 0 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.