ClinVar Miner

Variants studied for colorectal cancer, hereditary nonpolyposis, type 4

Included ClinVar conditions (2):
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 total
29 24 165 54 35 271

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 total
PMS2 28 23 165 54 35 269
RB1 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 10 10 85 19 13 137
Illumina Clinical Services Laboratory,Illumina 0 3 40 17 16 76
Mendelics 2 3 34 17 4 60
Fulgent Genetics,Fulgent Genetics 6 1 27 1 0 35
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 2 15 18
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 12 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 3 10 14
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 9 3 1 0 0 13
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 8 3 11
OMIM 7 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 2 1 4 0 0 7
Baylor Genetics 0 0 5 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 4
Division of Medical Genetics, University of Washington 1 0 3 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 0 0 0 3
IntelligeneCG 0 0 0 0 2 2
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 1 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
PreventionGenetics, PreventionGenetics 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 1

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