ClinVar Miner

Variants studied for Neoplasm of the breast

Coded as:
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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
152 325 201 79 0 4 759

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
TP53 3 191 0 0 3 197
BRCA2 49 1 76 17 0 142
BRCA1 55 2 35 9 0 101
BRIP1 1 0 62 29 0 92
PIK3CA 14 37 0 0 0 51
BARD1 1 0 15 20 0 35
CHEK2 3 3 11 3 0 20
ERBB2 7 12 0 0 1 20
HRAS, LRRC56 0 11 0 0 0 11
FBXW7 0 9 0 0 0 9
PTEN 4 4 0 0 0 8
MTOR 0 6 0 0 0 6
PALB2 5 0 1 0 0 6
ERBB3 0 5 0 0 0 5
ESR1 4 1 0 0 0 5
IDH1 0 5 0 0 0 5
RHOA 0 5 0 0 0 5
FGFR2 0 4 0 0 0 4
SMAD4 0 4 0 0 0 4
ATM, C11orf65 2 0 1 0 0 3
GNAS 0 3 0 0 0 3
HERC2 3 0 0 0 0 3
POLE 0 3 0 0 0 3
PPP2R1A 0 3 0 0 0 3
XPO1 0 3 0 0 0 3
ALK 0 2 0 0 0 2
BTK 0 2 0 0 0 2
MED12 0 2 0 0 0 2
SF3B1 0 2 0 0 0 2
SF3B2 0 2 0 0 0 2
AKT1 1 0 0 0 0 1
BRAF 0 1 0 0 0 1
CDH1 0 0 0 1 0 1
FGFR4 0 1 0 0 0 1
ROCK1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Database of Curated Mutations (DoCM) 32 321 0 0 4 357
Illumina Clinical Services Laboratory,Illumina 1 1 86 52 0 139
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University 46 2 69 0 0 117
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 32 0 22 0 0 54
CSER_CC_NCGL; University of Washington Medical Center 5 0 14 26 0 45
3DMed Clinical Laboratory Inc 17 1 11 1 0 30
Yang An-Suei Laboratory,Academia Sinica 22 0 0 0 0 22
Institute of Human Genetics,University of Wuerzburg 1 0 0 0 0 1
Centre for Molecular Diagnostics & Cell Biology,Rajiv Gandhi Cancer Institute & Research Center 1 0 0 0 0 1

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