ClinVar Miner

Variants studied for Lynch syndrome 4

Included ClinVar conditions (3):
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
326 168 354 75 46 7 860

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PMS2 325 167 354 75 46 7 858
RB1 1 1 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myriad Genetics, Inc. 293 101 71 17 24 0 506
Baylor Genetics 64 51 202 0 0 0 317
Counsyl 10 10 85 19 13 0 137
Illumina Laboratory Services, Illumina 1 3 40 17 16 0 77
Fulgent Genetics, Fulgent Genetics 11 6 51 4 1 0 73
Mendelics 2 3 28 17 5 0 55
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 1 13 19 0 34
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 2 15 0 18
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 5 0 11 0 0 0 16
MGZ Medical Genetics Center 5 4 6 0 0 0 15
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 11 0 15
Institute of Human Genetics, University of Leipzig Medical Center 4 2 8 0 0 0 14
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
OMIM 7 0 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 1 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 0 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 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
Genetics and Molecular Pathology, SA Pathology 0 1 1 1 1 0 4
University of Washington Department of Laboratory Medicine, University of Washington 1 2 0 1 0 0 4
deCODE genetics, Amgen 1 3 0 0 0 0 4
Division of Medical Genetics, University of Washington 1 0 3 0 0 0 4
Human Genetics Bochum, Ruhr University Bochum 3 0 1 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 0 0 0 0 3
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
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 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
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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