ClinVar Miner

Variants studied for colorectal cancer, hereditary nonpolyposis, type 5

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
45 31 280 117 27 1 475

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
MSH6 45 31 277 117 27 1 472
FBXO11, MSH6 0 0 3 0 0 0 3

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 17 18 174 72 2 0 283
Mendelics 4 6 42 43 9 0 104
Illumina Clinical Services Laboratory,Illumina 0 1 61 8 10 0 80
Fulgent Genetics,Fulgent Genetics 4 1 31 0 0 0 36
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 5 0 3 1 13 0 22
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 1 11 5 0 0 19
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 0 1 5 9 0 19
OMIM 10 0 1 0 0 0 11
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 5 4 0 10
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 7 2 0 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 4 1 2 0 0 0 7
Baylor Genetics 0 0 6 0 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 3 0 1 0 1 0 5
Division of Medical Genetics, University of Washington 2 0 3 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 3
University of Washington Department of Laboratory Medicine, University of Washington 0 3 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 0 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1

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