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
724 303 2503 401 143 3 7 479 4459

Gene and significance breakdown #

Total genes and gene combinations: 41
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
PALB2 293 108 1017 226 16 0 0 0 1606
CHEK2 160 103 689 77 5 0 2 1 1009
BARD1 89 25 688 59 15 0 0 0 863
BRCA1 67 2 5 0 42 0 0 276 385
BRCA2 86 5 1 0 62 0 2 187 342
BRIP1 19 16 62 33 1 0 0 0 130
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 6 2 1 1 0 0 0 12
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
GATA3 0 0 0 0 0 0 0 2 2
NBN 1 0 0 1 0 0 0 0 2
ANKRD30A 0 0 1 0 0 0 0 0 1
APC 0 0 1 0 0 0 0 0 1
ATR 0 0 0 0 0 0 1 0 1
BRIP1, LOC110120932 0 0 1 0 0 0 0 0 1
CDH1 0 0 1 0 0 0 0 0 1
CHEK2, HSCB 0 0 0 1 0 0 0 0 1
DCTN5, PALB2 0 0 0 0 1 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
MLH1 0 0 0 0 0 0 1 0 1
MT-TE 0 1 0 0 0 0 0 0 1
MT-TT 0 1 0 0 0 0 0 0 1
MUTYH 0 1 0 0 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
P3R3URF-PIK3R3, PIK3R3 0 0 1 0 0 0 0 0 1
PMS2 0 1 0 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: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 524 135 2300 125 1 0 0 3 3086
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
Mendelics 29 32 204 89 13 0 0 0 367
Baylor Genetics 49 0 0 0 97 0 0 0 146
PALB2 database 9 2 14 72 7 0 0 0 104
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,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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 10 2 1 0 0 0 0 0 13
Center of Medical Genetics and Primary Health Care 6 1 0 0 0 0 6 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
Faculty of Pharmacy, Ain Shams University 6 0 0 0 0 0 0 0 6
MVZ Praenatalmedizin und Genetik Nuernberg 1 2 2 1 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
GeneReviews 4 0 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 1 0 0 0 0 0 4
OMIM 2 0 1 0 0 0 0 0 3
Cancer Genetics Service,National Cancer Centre Singapore 1 1 1 0 0 0 0 0 3
Center for Human Genetics, Inc 1 1 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
Human Genetics Unit,University of Colombo 0 2 0 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Division of Human Genetics,University Cheikh Anta Diop 0 1 0 0 0 0 0 0 1

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