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
23 17 88 30 30 173

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 22 16 88 30 30 171
RB1 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 10 10 85 19 13 137
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
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
PreventionGenetics 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 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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