ClinVar Miner

Variants studied for Hereditary nonpolyposis colon cancer

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 not provided total
893 174 3475 221 8 1 4770

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH6 305 30 1281 75 0 0 1691
MSH2 209 45 888 51 0 1 1192
PMS2 159 36 741 48 2 0 985
MLH1 186 63 554 47 5 0 855
EPCAM, MIR559, MSH2 14 0 3 0 0 0 16
EPCAM 7 0 4 0 1 0 12
EPCAM, MIR559 7 0 3 0 0 0 10
EPM2AIP1, MLH1 9 0 1 0 0 0 10
EPCAM, MSH2 2 0 1 0 0 0 3
EPCAM, KCNK12, MIR559, MSH2, MSH2-OT1, MSH6 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 893 174 3475 221 8 0 4769
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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