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
84 46 210 78 40 442

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MSH2 51 17 178 64 18 315
MLH1 23 17 20 5 10 75
MSH6 8 8 5 6 3 30
PMS2 2 3 7 3 8 20
EPCAM 0 0 0 0 1 1
RAD51D, RAD51L3-RFFL 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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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) 40 31 33 11 9 124
Pathway Genomics 10 4 15 8 23 60
Fulgent Genetics 7 0 17 0 0 24
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 3 0 1 4 11 19
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 2 4 9 16
Center for Human Genetics, Inc 1 0 10 1 0 12
OMIM 11 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 2 5 9
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 5 0 0 5
Department of Molecular Diagnostics,Institute of Oncology 0 5 0 0 0 5
IntelligeneCG 0 0 0 0 3 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 1 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 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

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