ClinVar Miner

Variants studied for Familial cancer of breast

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 association risk factor not provided total
610 255 2036 665 188 3 1 478 4081

Gene and significance breakdown #

Total genes and gene combinations: 36
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
PALB2 232 95 846 351 45 0 0 0 1473
CHEK2 127 84 569 144 11 0 0 0 905
BARD1 73 20 554 154 26 0 0 0 806
BRCA1 64 2 5 0 42 0 0 276 382
BRCA2 86 4 1 0 62 0 0 187 339
BRIP1 18 9 20 10 0 0 0 0 57
MT-CYB 0 32 0 0 0 0 0 0 32
PRC1 0 0 20 0 0 0 0 0 20
ABCC1 0 0 9 0 0 3 0 0 12
ATM, C11orf65 2 5 2 1 1 0 0 0 11
ATM 5 1 0 0 0 0 0 0 6
ERBB2 0 0 0 0 0 0 0 5 5
PIK3CA 0 1 0 0 0 0 0 4 5
TP53 1 0 1 0 0 0 0 2 4
DCTN5, PALB2 0 0 0 1 1 0 0 0 2
GATA3 0 0 0 0 0 0 0 2 2
ANKRD30A 0 0 1 0 0 0 0 0 1
APC 0 0 1 0 0 0 0 0 1
BRIP1, LOC110120932 0 0 1 0 0 0 0 0 1
CDH1 0 0 1 0 0 0 0 0 1
EGFR 0 0 0 0 0 0 0 1 1
ESR1 0 0 0 0 0 0 1 0 1
KRAS 0 0 0 0 0 0 0 1 1
LOC110117498-PIK3R3, PIK3R3 0 0 1 0 0 0 0 0 1
MT-TE 0 1 0 0 0 0 0 0 1
MT-TT 0 1 0 0 0 0 0 0 1
NBN 0 0 0 1 0 0 0 0 1
NCOR1 0 0 1 0 0 0 0 0 1
NOBOX 0 0 1 0 0 0 0 0 1
RAD50 0 0 0 1 0 0 0 0 1
RAD50, TH2LCRR 0 0 0 1 0 0 0 0 1
RAD51 1 0 0 0 0 0 0 0 1
RAD51C 0 0 0 1 0 0 0 0 1
RET 1 0 0 0 0 0 0 0 1
TET2 0 0 1 0 0 0 0 0 1
TSG101 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 423 109 1893 516 70 0 0 3 3014
Counsyl 37 75 244 95 13 0 0 0 464
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 444 445
PALB2 database 36 6 62 87 16 0 0 0 207
Baylor Miraca Genetics Laboratories, 49 0 0 0 97 0 0 0 146
Mendelics 6 10 92 2 1 0 0 0 111
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 19 42 35 0 0 0 0 96
GeneKor MSA 57 4 0 0 0 0 0 0 61
GeneDx 35 0 4 0 8 0 0 0 47
Department of Zoology Govt. MVM College 0 34 0 0 0 0 0 0 34
Research Lab, National Institute of Public Health 0 0 29 0 0 3 0 0 32
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 22 6 0 0 0 0 0 0 28
Integrated Genetics/Laboratory Corporation of America 9 17 0 0 0 0 0 0 26
Fulgent Genetics 3 0 20 0 0 0 0 0 23
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 0 1 0 0 0 16 20
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 0 15 15
Pathway Genomics 3 1 2 0 7 0 0 0 13
University of Washington Department of Laboratory Medicine,University of Washington 0 0 1 7 1 0 0 0 9
Faculty of Pharmacy,Medical University of Gdansk 0 0 8 0 0 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 5 2 1 0 0 0 0 0 8
Faculty of Pharmacy, Ain Shams University 6 0 0 0 0 0 0 0 6
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 5 0 1 0 0 0 0 0 6
MVZ Praenatalmedizin und Genetik Nuernberg 1 1 2 1 0 0 0 0 5
GeneReviews 4 0 0 0 0 0 0 0 4
OMIM 2 0 1 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology 2 0 1 0 0 0 0 0 3
Center for Human Genetics, Inc 1 1 0 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 0 0 2
Ambry Genetics 0 0 0 2 0 0 0 0 2
Diagnostic Molecular Genetics Laboratory,Memorial Sloan Kettering Cancer Center 0 2 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 1 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 0 0 2
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 0 0 2
Academic Center for Education, Culture and Research, Motamed Cancer Institute 2 0 0 0 0 0 0 0 2
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 1 1 0 0 0 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 0 0 1
Centro Diagnostico Italiano 0 0 1 0 0 0 0 0 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 0 0 1
Sanfordhealth-Fargo,Sanfordhealth 0 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.