ClinVar Miner

Variants studied for Lynch syndrome 5

Included ClinVar conditions (5):
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
910 172 360 201 108 10 1551

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 908 166 350 195 105 10 1528
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: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myriad Genetics, Inc. 887 110 100 67 70 0 1234
Counsyl 17 18 174 72 2 0 283
Mendelics 4 6 28 44 13 0 95
Fulgent Genetics, Fulgent Genetics 13 3 53 11 4 0 84
Illumina Laboratory Services, Illumina 0 1 61 8 10 0 80
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 1 12 18 23 0 55
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 24 0 0 0 26
Institute of Human Genetics, University of Leipzig Medical Center 11 9 4 0 0 0 24
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
Neuberg Centre For Genomic Medicine, NCGM 1 0 14 0 0 0 15
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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 7 2 0 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 8 8
Baylor Genetics 0 0 7 0 0 0 7
Human Genetics Bochum, Ruhr University Bochum 3 4 0 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 3 3 0 0 0 0 6
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 1 0 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
MVZ Praenatalmedizin und Genetik Nuernberg 1 2 0 0 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
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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 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
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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