ClinVar Miner

Variants studied for Breast and/or ovarian 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 total
349 118 742 681 209 2065

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 121 31 178 145 48 503
BRCA1 103 15 74 77 17 274
ATM 9 3 74 56 31 173
MSH6 6 3 41 52 13 115
PMS2 3 3 53 46 10 115
ATM, C11orf65 12 14 34 29 7 96
MSH2 2 1 38 37 17 95
BRIP1 9 5 37 30 6 87
PALB2 18 5 30 27 7 87
MLH1 6 0 25 42 11 84
CDH1 0 0 23 43 9 75
CHEK2 8 14 36 11 2 70
STK11 0 0 22 22 3 47
TP53 6 6 14 15 5 46
BRCA1, LOC126862571 22 3 8 7 4 43
BARD1 3 1 16 14 1 35
RAD51C 3 5 11 8 8 35
RAD51D, RAD51L3-RFFL 6 4 13 8 2 33
PTEN 1 1 10 10 6 28
NBN 6 0 0 0 0 6
LOC129390903, RAD51C 1 2 2 0 0 5
LOC130062899, STK11 0 0 3 1 1 5
RAD50 4 1 0 0 0 5
BRCA1, LOC111589215 0 0 0 0 1 1
HOXB13 0 1 0 0 0 1
LOC130061310, RAD51C 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 159 97 682 668 195 1801
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 96 7 59 15 17 194
CZECANCA consortium 153 15 0 0 0 168
CSER _CC_NCGL, University of Washington 0 0 8 4 0 12

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