Variants studied for Colorectal cancer

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	association	established risk allele	protective	risk factor	total
83	36	575	18	20	1	1	1	4	736

Gene and significance breakdown #

Total genes and gene combinations: 70

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	established risk allele	protective	risk factor	total
AXIN2	1	15	279	1	0	0	0	0	0	296
DLC1	0	0	239	10	2	0	0	0	0	251
APC	11	2	9	0	0	0	1	0	1	21
BUB1B	0	0	1	2	11	0	0	0	0	14
CTNNA1	5	1	7	0	0	0	0	0	0	13
POLE	1	4	5	0	0	0	0	0	0	10
CHEK2	5	1	3	0	0	0	0	0	0	9
DLC1, LOC126860305	0	0	5	3	0	0	0	0	0	8
TP53	6	0	0	1	0	0	0	0	0	7
MSH6	1	1	4	0	0	0	0	0	0	6
POLD1	1	0	5	0	0	0	0	0	0	6
BRCA1	2	0	3	0	0	0	0	0	0	5
BRCA2	3	1	1	0	0	0	0	0	0	5
AMER1	3	1	0	0	0	0	0	0	0	4
DCC	1	0	3	0	0	0	0	0	0	4
ARID1A	2	0	0	0	0	1	0	0	0	3
ATM, C11orf65	3	0	0	0	0	0	0	0	0	3
BUB1B, BUB1B-PAK6	0	0	0	0	3	0	0	0	0	3
DMD	3	0	0	0	0	0	0	0	0	3
MSH2	1	0	2	0	0	0	0	0	0	3
intergenic	0	0	0	0	0	0	0	0	2	2
ATM	2	0	0	0	0	0	0	0	0	2
BLM	2	0	0	0	0	0	0	0	0	2
CTNNB1	2	0	0	0	0	0	0	0	0	2
CTNNB1, LOC126806659	0	2	0	0	0	0	0	0	0	2
EP300	2	0	0	0	0	0	0	0	0	2
ERBB2	2	0	0	0	0	0	0	0	0	2
MLH3	1	0	1	0	0	0	0	0	0	2
PALB2	2	0	0	0	0	0	0	0	0	2
PIK3CA	2	0	0	0	0	0	0	0	0	2
SEMA4A	0	0	2	0	0	0	0	0	0	2
SMAD4	1	1	0	0	0	0	0	0	0	2
ADAR	0	0	0	0	0	0	0	1	0	1
AKAP9	0	0	0	0	1	0	0	0	0	1
AURKA	0	0	1	0	0	0	0	0	0	1
BRAF	1	0	0	0	0	0	0	0	0	1
BRF1	0	1	0	0	0	0	0	0	0	1
BRIP1	1	0	0	0	0	0	0	0	0	1
BUB1	0	0	1	0	0	0	0	0	0	1
BUB1B, LOC130056830	0	0	0	0	1	0	0	0	0	1
CDH1	1	0	0	0	0	0	0	0	0	1
DCTN5, PALB2	0	1	0	0	0	0	0	0	0	1
FANCI	0	1	0	0	0	0	0	0	0	1
FBXW7	1	0	0	0	0	0	0	0	0	1
FGFR2	1	0	0	0	0	0	0	0	0	1
FLT4	0	0	0	0	1	0	0	0	0	1
FZD3	1	0	0	0	0	0	0	0	0	1
GALNT12	0	0	1	0	0	0	0	0	0	1
IGF2, INS-IGF2	1	0	0	0	0	0	0	0	0	1
KCNB2	0	0	0	0	0	0	0	0	1	1
LOC126862278, RBFOX1	1	0	0	0	0	0	0	0	0	1
LOC130009266, POLE	0	0	0	1	0	0	0	0	0	1
MET	1	0	0	0	0	0	0	0	0	1
MUTYH	1	0	0	0	0	0	0	0	0	1
MYO1B	1	0	0	0	0	0	0	0	0	1
NFE2L2	0	1	0	0	0	0	0	0	0	1
NRAS	0	1	0	0	0	0	0	0	0	1
PIK3R1	1	0	0	0	0	0	0	0	0	1
PMS1	1	0	0	0	0	0	0	0	0	1
PTPN12	0	0	1	0	0	0	0	0	0	1
PTPRJ	0	0	0	0	1	0	0	0	0	1
RAD51D, RAD51L3-RFFL	1	0	0	0	0	0	0	0	0	1
RET	1	0	0	0	0	0	0	0	0	1
RMI1	0	1	0	0	0	0	0	0	0	1
SGK2	0	1	0	0	0	0	0	0	0	1
SLC9A9	1	0	0	0	0	0	0	0	0	1
SOX9	1	0	0	0	0	0	0	0	0	1
TCERG1	1	0	0	0	0	0	0	0	0	1
TLR2	0	0	1	0	0	0	0	0	0	1
XRCC2	0	0	1	0	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 35

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	established risk allele	protective	risk factor	total
Baylor Genetics	1	15	280	0	0	0	0	0	0	296
Fulgent Genetics, Fulgent Genetics	0	0	244	13	3	0	0	0	0	260
Genomic Center, National Cancer Institute	50	2	10	0	0	0	0	0	0	62
CSER _CC_NCGL, University of Washington	0	0	25	2	0	0	0	0	0	27
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	0	0	2	15	0	0	0	0	17
Mendelics	9	2	0	0	1	0	0	0	0	12
Division of Gastroenterology and Hepatology, Shanghai Institute of Digestive Disease, Shanghai Jiao Tong University School of Medicine.	1	10	0	0	0	0	0	0	0	11
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo	6	0	0	1	0	0	0	0	0	7
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	4	0	0	0	0	0	0	5
Human Genetics Bochum, Ruhr University Bochum	4	1	0	0	0	0	0	0	0	5
Colorectal Cancer Research Lab, Singapore General Hospital	0	0	0	0	0	0	0	1	3	4
Institute of Human Genetics, University of Leipzig Medical Center	3	1	0	0	0	0	0	0	0	4
MGZ Medical Genetics Center	2	1	0	0	0	0	0	0	0	3
3DMed Clinical Laboratory Inc	0	0	3	0	0	0	0	0	0	3
Illumina Laboratory Services, Illumina	0	0	2	0	0	0	0	0	0	2
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust	0	2	0	0	0	0	0	0	0	2
Center for Studies on Hereditary Cancer, University of Bologna	1	0	1	0	0	0	0	0	0	2
University Health Network, Princess Margaret Cancer Centre	2	0	0	0	0	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	0	0	0	0	2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	0	0	0	1	0	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	0	0	0	0	0	0	1	1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	0	0	0	0	0	1
Centogene AG - the Rare Disease Company	1	0	0	0	0	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	0	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	0	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	0	0	0	0	1	0	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	0	1	0	0	0	0	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	1	0	0	0	0	0	0	0	0	1
Human Genetics Unit, University Of Colombo	1	0	0	0	0	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	0	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	0	0	0	0	1	0	0	1
Leiden Open Variation Database	1	0	0	0	0	0	0	0	0	1
Department of Biochemistry, Shiraz University of Medical Sciences	0	0	0	0	0	1	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	1	0	0	0	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	0	0	0	0	1

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