ClinVar Miner

Variants studied for Colorectal cancer, susceptibility to, 12

Coded as:
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 risk factor not provided total
18 14 406 241 61 1 3 726

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
POLE 17 14 389 236 60 1 3 702
LOC130009266, POLE 0 0 16 5 1 0 0 22
ANKLE2, CHFR, GOLGA3, PGAM5, POLE, PXMP2, ZNF140, ZNF26, ZNF605, ZNF84 1 0 0 0 0 0 0 1
DDX51, EP400, FBRSL1, LRCOL1, MUC8, NOC4L, P2RX2, POLE, PUS1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 17 10 178 118 1 0 0 324
Counsyl 0 1 67 71 12 0 0 151
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 1 5 25 56 0 0 87
Baylor Genetics 0 0 67 0 0 0 0 67
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 54 0 0 0 0 54
Mendelics 0 0 20 28 1 0 0 49
Myriad Genetics, Inc. 0 0 15 3 1 0 0 19
MGZ Medical Genetics Center 0 0 17 0 0 0 0 17
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 8 0 0 0 0 8
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 6 1 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 5 0 0 0 0 5
Molecular Oncology Laboratory, Hospital Clínico San Carlos 0 1 2 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 0 1 2 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 2 0 0 0 0 3
Division of Medical Genetics, University of Washington 0 0 3 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
OMIM 0 0 0 0 0 1 0 1
Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
New York Genome Center 0 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 0 1

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