ClinVar Miner

Variants studied for Lynch syndrome I

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 total
101 63 288 108 54 564

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MSH2 61 23 239 93 32 402
MLH1 30 29 21 5 10 94
MSH6 8 7 10 6 3 34
PMS2 2 3 12 3 8 25
EPCAM 0 0 5 0 1 6
KCNK12, MSH2 0 0 1 1 0 2
RAD51D, RAD51L3-RFFL 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 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
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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 2 5 9
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 7 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 2 2 2 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 5 0 0 5
IntelligeneCG 0 0 0 0 3 3
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
Division of Medical Genetics, University of Washington 0 0 2 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
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

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