ClinVar Miner

Variants studied for Familial colorectal cancer

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 other not provided total
13 2 68 1 0 1024 2 1110

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign other not provided total
APC 0 0 1 0 930 0 931
​intergenic 0 0 0 0 94 0 94
POLE 0 0 46 0 0 0 46
POLD1 0 0 17 1 0 0 18
MT-CO1 3 0 0 0 0 0 3
MUTYH 2 1 0 0 0 0 3
ARHGAP11A-SCG5, GREM1, LOC105370757, SCG5 0 0 2 0 0 0 2
ARHGAP11A-SCG5, GREM1, SCG5 1 0 1 0 0 0 2
MT-CYB 2 0 0 0 0 0 2
TP53 2 0 0 0 0 0 2
ARHGAP11A-SCG5, GREM1, LOC100131315, LOC105370757, SCG5 0 0 1 0 0 0 1
KAT5 0 0 0 0 0 1 1
MT-CO2 1 0 0 0 0 0 1
MT-ND4L 1 0 0 0 0 0 1
PLA2G2A 1 0 0 0 0 0 1
TGFBR2 0 1 0 0 0 0 1
TRIM28 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign other not provided total
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 1024 0 1024
Mendelics 0 0 63 0 0 0 63
OMIM 10 0 0 0 0 0 10
Invitae 1 0 4 0 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 4
Systems Biology Division; Zhejiang-California International Nanosystems Institute 0 0 0 0 0 2 2
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 1 0 0 1

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