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
891 161 346 201 106 10 1508

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH6 889 156 337 195 103 10 1487
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
PMS2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myriad Genetics, Inc. 870 107 100 67 68 0 1212
Counsyl 17 18 174 72 2 0 283
Mendelics 4 6 30 44 13 0 97
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 0 9 18 23 0 51
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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 7 2 0 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 1 0 8 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
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
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 1 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
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
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
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
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

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