ClinVar Miner

Variants studied for Lynch syndrome 4

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
383 200 462 292 769 2 1939

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
PMS2 379 196 462 292 769 2 1931
PMS1 0 2 0 0 0 0 2
RB1 1 1 0 0 0 0 2
AIMP2, ANKRD61, EIF2AK1, PMS2 1 0 0 0 0 0 1
AIMP2, LOC129997918, PMS2, SNORA80D 1 0 0 0 0 0 1
MSH2 1 0 0 0 0 0 1
MSH6 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myriad Genetics, Inc. 333 113 69 232 757 0 1504
Baylor Genetics 70 56 308 0 0 0 434
Counsyl 10 10 85 19 13 0 137
Illumina Laboratory Services, Illumina 1 4 40 17 16 0 78
Molecular Pathology, Peter Maccallum Cancer Centre 8 5 55 4 0 0 72
Mendelics 3 3 27 17 5 0 55
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 2 13 25 0 41
Department of Pathology and Laboratory Medicine, Sinai Health System 18 1 8 7 0 0 34
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 0 18 0 0 0 24
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 2 15 0 18
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 11 0 15
Institute of Human Genetics, University of Leipzig Medical Center 6 3 6 0 0 0 15
MGZ Medical Genetics Center 5 4 6 0 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 3 10 0 14
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 9 3 1 0 0 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 8 3 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 3 5 1 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 1 0 0 0 7
OMIM 7 0 0 0 0 0 7
University of Washington Department of Laboratory Medicine, University of Washington 1 5 0 1 0 0 7
Genesis Genomics 5 1 0 0 0 0 6
Helix 1 0 5 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 0 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 3 0 0 0 5
Division of Medical Genetics, University of Washington 1 0 3 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 1 1 1 1 0 4
Human Genetics Bochum, Ruhr University Bochum 3 0 1 0 0 0 4
deCODE genetics, Amgen 1 3 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 2 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
3billion 1 0 1 0 0 0 2
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 0 0 0 2 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Kong lab, Department of Laboratory Medicine, National Cancer Center 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1

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