ClinVar Miner

Variants studied for Colorectal cancer, hereditary nonpolyposis, type 2

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
689 220 362 392 605 1 2031

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MLH1 688 219 361 392 605 1 2028
LRRFIP2, MLH1 1 1 0 0 0 0 2
MSH2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myriad Genetics, Inc. 629 151 28 313 585 0 1706
Baylor Genetics 58 41 248 0 0 0 347
Counsyl 17 14 78 49 4 0 162
Mendelics 1 6 18 35 13 0 73
Illumina Laboratory Services, Illumina 0 0 51 12 5 0 68
KCCC/NGS Laboratory, Kuwait Cancer Control Center 4 0 1 8 19 0 32
OMIM 27 0 3 0 0 0 30
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 21 0 0 0 23
Center for Human Genetics, Inc, Center for Human Genetics, Inc 3 3 7 2 1 0 16
Institute of Human Genetics, University of Leipzig Medical Center 7 3 4 1 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 9 1 5 0 0 0 15
MGZ Medical Genetics Center 7 2 5 0 0 0 14
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 7 3 1 0 0 0 11
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 6 3 2 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 1 2 5 0 10
Human Genetics Bochum, Ruhr University Bochum 5 2 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 4 1 1 0 0 0 6
Department of Human Genetics, Hannover Medical School 2 1 3 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 0 2 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 5 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 3 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 1 0 0 3
Division of Medical Genetics, University of Washington 1 0 2 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 0 2 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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