ClinVar Miner

Variants studied for Lynch syndrome 5

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
899 159 315 194 108 4 1484

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 not provided total
MSH6 897 153 305 188 105 4 1461
LOC129933707, MSH6 2 5 3 4 3 0 13
LOC129933706, MSH6 0 0 2 2 0 0 4
FBXO11, MSH6 0 0 3 0 0 0 3
KMT2D 0 0 1 0 0 0 1
PMS2 0 0 1 0 0 0 1
RYR1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myriad Genetics, Inc. 878 107 100 67 70 0 1222
Counsyl 17 18 174 72 2 0 283
Mendelics 4 6 28 44 13 0 95
Illumina Laboratory Services, Illumina 0 1 61 8 10 0 80
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 1 11 18 23 0 54
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 20 0 0 0 22
MGZ Medical Genetics Center 7 6 8 0 0 0 21
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 5 0 1 1 13 0 20
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 1 11 5 0 0 19
Genetics and Molecular Pathology, SA Pathology 12 3 2 0 1 0 18
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 0 0 5 9 0 18
Institute of Human Genetics, University of Leipzig Medical Center 8 5 4 0 0 0 17
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 8 0 0 0 12
OMIM 10 0 1 0 0 0 11
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 5 4 0 10
Neuberg Centre For Genomic Medicine, NCGM 1 0 9 0 0 0 10
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 7 2 0 0 0 0 9
Baylor Genetics 0 0 7 0 0 0 7
Human Genetics Bochum, Ruhr University Bochum 3 4 0 0 0 0 7
deCODE genetics, Amgen 1 5 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 4 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 1 0 0 0 0 5
University of Washington Department of Laboratory Medicine, University of Washington 0 4 0 1 0 0 5
Division of Medical Genetics, University of Washington 2 0 3 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 0 0 0 1 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 2 0 2 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 1 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 2 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 2 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 0 0 1 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 2
MVZ Praenatalmedizin und Genetik Nuernberg 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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