ClinVar Miner

Variants studied for colorectal cancer, hereditary nonpolyposis, type 2

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 not provided total
58 35 165 89 24 1 331

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MLH1 58 35 165 88 24 1 330
MLH3 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 17 14 78 49 4 0 162
Mendelics 1 6 25 34 12 0 78
Illumina Clinical Services Laboratory,Illumina 0 0 51 12 5 0 68
Fulgent Genetics,Fulgent Genetics 6 3 26 1 0 0 36
OMIM 27 0 3 0 0 0 30
Center for Human Genetics, Inc,Center for Human Genetics, Inc 3 3 7 2 1 0 16
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 7 3 1 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 1 2 6 0 11
Institute of Human Genetics, University of Leipzig Medical Center 3 2 2 2 0 0 9
Baylor Genetics 0 0 5 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 2 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 3 0 3
Division of Medical Genetics, University of Washington 1 0 2 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 2 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
GenomeConnect, ClinGen 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.