ClinVar Miner

Variants studied for Malignant tumor of breast

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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
346 84 814 496 210 4 1948

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 not provided total
BRCA2 129 9 186 108 53 0 484
BRCA1 76 7 90 73 31 0 277
ATM 19 16 68 43 17 0 162
PALB2 31 13 41 22 10 0 117
CHEK2 11 7 50 10 3 0 81
ATM, C11orf65 9 7 32 22 7 0 77
BARD1 11 3 34 18 5 3 73
CDH1 6 1 26 28 7 0 68
MSH6 3 1 43 17 3 0 67
BRIP1 8 6 31 14 5 1 62
MSH2 2 0 36 20 1 0 59
PMS2 4 2 25 20 7 0 58
NBN 2 1 23 15 2 0 43
BRCA1, LOC126862571 19 0 15 2 6 0 42
RAD51D, RAD51L3-RFFL 3 2 14 11 1 0 31
STK11 0 0 8 20 3 0 31
TP53 5 2 12 7 4 0 30
AOPEP, FANCC 1 1 14 6 5 0 27
MLH1 0 0 10 10 4 0 24
RAD51C 2 0 8 3 4 0 17
FANCC 2 0 4 3 3 0 12
PTEN 1 1 4 3 3 0 12
POLE 0 0 7 0 3 0 10
APC 1 0 2 4 0 0 7
POLD1 0 0 4 2 1 0 7
CDKN2B 0 5 0 0 0 0 5
LOC130062899, STK11 0 0 1 2 1 0 4
BMPR1A 0 0 2 1 0 0 3
BRCA1, LOC111589215 0 0 2 1 0 0 3
LOC129390903, RAD51C 1 0 2 0 0 0 3
SLX4 0 0 2 0 1 0 3
AXIN2 0 0 1 0 1 0 2
FANCB 0 0 1 0 1 0 2
KIF1B 0 0 0 2 0 0 2
LOC126860438, NBN 0 0 0 1 1 0 2
MC1R 0 0 0 1 1 0 2
MUTYH 0 0 1 0 1 0 2
RECQL4 0 0 2 0 0 0 2
RET 0 0 1 0 1 0 2
SMAD4 0 0 0 2 0 0 2
TSC1 0 0 0 0 2 0 2
ABRAXAS1 0 0 1 0 0 0 1
ATR 0 0 0 1 0 0 1
CASR 0 0 0 0 1 0 1
DICER1 0 0 0 0 1 0 1
EXT1 0 0 1 0 0 0 1
FANCA 0 0 0 0 1 0 1
FANCD2, LOC107303338 0 0 1 0 0 0 1
FANCE 0 0 0 0 1 0 1
FANCF 0 0 0 0 1 0 1
FANCI 0 0 1 0 0 0 1
FH 0 0 1 0 0 0 1
LOC106736614, RET 0 0 1 0 0 0 1
LOC129933707, MSH6 0 0 1 0 0 0 1
LOC130009266, POLE 0 0 1 0 0 0 1
LOC130061310, RAD51C 0 0 0 1 0 0 1
MLH3 0 0 0 1 0 0 1
NF2 0 0 1 0 0 0 1
POLH, POLR1C 0 0 0 0 1 0 1
PRKDC 0 0 0 0 1 0 1
RAD50 0 0 1 0 0 0 1
SDHB 0 0 0 0 1 0 1
SDHC 0 0 0 1 0 0 1
SMARCA4 0 0 0 0 1 0 1
TERT 0 0 0 0 1 0 1
TINF2 0 0 0 0 1 0 1
TSHR 0 0 1 0 0 0 1
TYR 0 0 0 1 0 0 1
WRAP53 0 0 1 0 0 0 1
WRN 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Department of Pathology and Laboratory Medicine, Sinai Health System 297 36 783 486 178 0 1780
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 47 41 0 0 0 0 88
Center of Medical Genetics and Primary Health Care 1 0 24 10 36 0 71
Institute of Biochemistry And Biotechnology, University of Veterinary and Animal Sciences, Lahore, Pakistan 0 5 0 0 0 0 5
King Laboratory, University of Washington 4 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 2 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Faculty of Pharmacy, Ain Shams University 0 0 1 0 0 0 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 1 0 0 0 0 0 1
Department of Pediatrics, University Hospital Center Zagreb 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 1

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