ClinVar Miner

Variants studied for Hereditary nonpolyposis colorectal cancer type 4

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
25 21 113 42 31 213

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 24 20 113 42 31 211
RB1 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 10 10 85 19 13 137
Mendelics 2 3 34 17 4 60
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
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 8 3 11
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 7 2 0 0 0 9
OMIM 7 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 4
Illumina Clinical Services Laboratory,Illumina 0 3 0 0 0 3
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
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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