ClinVar Miner

Variants studied for Hereditary breast ovarian cancer syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
5673 973 11156 6282 924 29 24314

Gene and significance breakdown #

Total genes and gene combinations: 174
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRCA2 3160 419 6878 3602 357 8 13994
BRCA1 1921 308 3014 1963 238 17 7232
BRCA1, LOC126862571 318 13 539 250 35 4 1131
PALB2 75 29 22 34 15 0 174
ATM 8 11 47 59 49 0 173
CHEK2 37 42 40 11 13 0 136
BRIP1 19 27 49 22 21 0 131
BARD1 14 13 43 27 24 0 118
RAD51D, RAD51L3-RFFL 17 13 52 21 1 0 97
ATM, C11orf65 7 8 27 37 17 0 96
RAD51C 26 25 31 13 5 0 92
BRCA2, LOC106721785 0 5 35 29 6 0 74
TP53 6 11 20 16 18 0 69
NBN 2 3 16 23 21 0 65
FANCD2, LOC107303338 0 0 1 19 36 0 56
MRE11 2 5 15 21 11 0 54
RAD51B 0 1 8 16 13 0 38
BRCA1, LOC111589215 1 0 14 18 4 0 37
RAD54L 0 0 6 22 4 0 32
MLH1 3 1 22 3 1 0 30
MSH6 1 3 21 4 1 0 30
CDH1 1 3 18 4 0 0 26
CDK12 0 0 1 19 5 0 25
FANCM 0 3 21 1 0 0 25
MSH2 1 1 19 1 3 0 25
BLM 0 3 15 0 0 0 18
RAD50 2 5 11 0 0 0 18
PMS2 2 2 9 4 0 0 17
PPP2R2A 0 0 1 9 6 0 16
FANCD2, FANCD2OS 0 0 2 8 5 0 15
NF1 0 2 13 0 0 0 15
BRCA1, LOC110485084, LOC111589216, LOC126862571 8 0 3 0 0 0 11
BRCA1, LOC110485084, LOC111589215, LOC111589216, LOC126862571 7 0 3 0 0 0 10
PTEN 1 1 6 1 0 0 9
STK11 0 1 5 3 0 0 9
RECQL 0 1 5 2 0 0 8
BRCA1, LOC110485084, LOC111589215, LOC111589216 2 0 5 0 0 0 7
LOC129390903, RAD51C 3 0 4 0 0 0 7
ABRAXAS1 0 0 6 0 0 0 6
BRCA1, LOC110485084, LOC111589216 4 0 2 0 0 0 6
CDK12, LOC126862553 0 0 0 5 1 0 6
RINT1 0 1 5 0 0 0 6
LRRC41, RAD54L 0 0 1 3 1 0 5
AOPEP, FANCC 0 0 2 2 0 0 4
BARD1, LOC129935544 0 0 0 0 4 0 4
BRCA1, NBR2 2 0 2 0 0 0 4
BRCA2, LOC112163653, LOC130009524 3 0 1 0 0 0 4
LOC126860438, NBN 0 0 0 3 1 0 4
BRCA2, LOC106721785, LOC130009523 3 0 0 0 0 0 3
BRCA2, LOC106721785, ZAR1L 0 0 1 0 2 0 3
EPCAM 0 0 3 0 0 0 3
FANCD2 0 0 0 0 3 0 3
FMN1 1 0 1 1 0 0 3
PMS1 0 0 1 2 0 0 3
APC 0 0 0 1 1 0 2
BRCA1, LOC111589215, NBR2 0 0 0 0 2 0 2
FHIT 1 0 0 1 0 0 2
LZTR1 0 2 0 0 0 0 2
MEN1 0 2 0 0 0 0 2
MUTYH 1 1 0 0 0 0 2
RAD50, TH2LCRR 0 0 2 0 0 0 2
RAD51D 2 0 0 0 0 0 2
XRCC2 1 0 1 0 0 0 2
A1CF 0 0 1 0 0 0 1
ABCB1 0 0 1 0 0 0 1
ABCG2 0 0 1 0 0 0 1
ACACA 0 0 1 0 0 0 1
AIM2 0 0 1 0 0 0 1
ARL4D, BRCA1, DHX8, ETV4, NBR1, NBR2, TMEM106A 0 0 1 0 0 0 1
ATR 0 1 0 0 0 0 1
BCAR1 0 1 0 0 0 0 1
BCL2L1 0 0 1 0 0 0 1
BIRC6 0 0 1 0 0 0 1
BRCA2, LOC106721785, LOC112163653, LOC130009523, LOC130009524 1 0 0 0 0 0 1
BRIP1, LOC130061360 0 0 0 1 0 0 1
CCNG1 0 0 1 0 0 0 1
CDK20 0 0 1 0 0 0 1
CHD1L 0 0 1 0 0 0 1
COL2A1 0 0 1 0 0 0 1
CPS1 0 1 0 0 0 0 1
CSMD3 0 0 1 0 0 0 1
CTNNA1 1 0 0 0 0 0 1
CTNNA2 1 0 0 0 0 0 1
DCTN5, PALB2 1 0 0 0 0 0 1
DMBT1 0 0 1 0 0 0 1
DROSHA 1 0 0 0 0 0 1
EED 0 0 1 0 0 0 1
EFCAB10, RINT1 0 0 1 0 0 0 1
EGFR 0 0 1 0 0 0 1
EIF2B5 1 0 0 0 0 0 1
ENO2, LOC130007287 0 0 1 0 0 0 1
EP300 0 0 1 0 0 0 1
ERCC6 0 0 1 0 0 0 1
ERCC8 0 0 1 0 0 0 1
ESCO2 0 0 1 0 0 0 1
EVI2A, EVI2B, NF1, OMG 0 1 0 0 0 0 1
EXO1 0 0 1 0 0 0 1
EYA2 0 0 1 0 0 0 1
FAN1 0 0 1 0 0 0 1
FAN1, MTMR10 0 0 1 0 0 0 1
FANCC 0 0 1 0 0 0 1
FANCE 0 0 1 0 0 0 1
FEN1 0 0 1 0 0 0 1
FLCN 0 0 1 0 0 0 1
FLNA 0 0 1 0 0 0 1
FOXD1 0 0 1 0 0 0 1
GPHN 0 0 1 0 0 0 1
HERPUD1 1 0 0 0 0 0 1
HNF1A 0 0 1 0 0 0 1
ID3 0 0 1 0 0 0 1
INSL6, JAK2 0 0 1 0 0 0 1
KIT 0 0 1 0 0 0 1
KRAS 0 1 0 0 0 0 1
KRT19 0 0 1 0 0 0 1
LASP1 0 0 1 0 0 0 1
LCP1 1 0 0 0 0 0 1
LEPROTL1 0 0 1 0 0 0 1
LIFR 0 0 1 0 0 0 1
LOC107988030, MITF 0 1 0 0 0 0 1
LOC126806995, MED28 0 0 1 0 0 0 1
LOC126807401, PLK2 1 0 0 0 0 0 1
LOC126862741, SMAD7 0 0 1 0 0 0 1
LOC129933707, MSH6 0 1 0 0 0 0 1
LOC130004273, MLDHR, PTEN 0 0 0 1 0 0 1
LRP12 0 0 1 0 0 0 1
MAFG 0 0 1 0 0 0 1
MELK 0 0 1 0 0 0 1
MME 0 0 1 0 0 0 1
MYO5A 0 0 1 0 0 0 1
MYO7A 0 1 0 0 0 0 1
NBPF3 0 0 1 0 0 0 1
NCAM1 0 0 1 0 0 0 1
NEK3 0 0 1 0 0 0 1
NEMF 0 0 1 0 0 0 1
NFKB2 0 0 1 0 0 0 1
NOTCH2 0 0 1 0 0 0 1
PAK4 0 0 1 0 0 0 1
PAX7 0 0 1 0 0 0 1
PCSK7 0 0 1 0 0 0 1
PDGFB 0 0 1 0 0 0 1
PLCG1 0 0 1 0 0 0 1
POLQ 0 0 1 0 0 0 1
PTCH1 1 0 0 0 0 0 1
PTPRK 0 0 1 0 0 0 1
PUM1 0 0 1 0 0 0 1
PYROXD1, RECQL 0 0 1 0 0 0 1
RAD50, TH2-LCR, TH2LCRR 0 0 1 0 0 0 1
RALGDS 0 0 1 0 0 0 1
RFC1 0 0 1 0 0 0 1
RIPK1 1 0 0 0 0 0 1
RPN1 0 0 1 0 0 0 1
SAV1 0 0 1 0 0 0 1
SLC25A15 1 0 0 0 0 0 1
SLC34A2 0 1 0 0 0 0 1
SLX4 0 0 1 0 0 0 1
SP100 0 0 1 0 0 0 1
TACC3 0 0 1 0 0 0 1
TDG 0 0 1 0 0 0 1
TERT 0 0 1 0 0 0 1
TES 0 0 1 0 0 0 1
TFRC 0 0 1 0 0 0 1
TG 0 0 1 0 0 0 1
TLX3 0 0 1 0 0 0 1
TNC 0 0 1 0 0 0 1
TPM4 0 0 1 0 0 0 1
TSHR 0 0 1 0 0 0 1
TYRO3 0 0 1 0 0 0 1
UFL1 0 0 1 0 0 0 1
UNG 0 0 1 0 0 0 1
VRK1 0 1 0 0 0 0 1
VTI1A 0 0 1 0 0 0 1
WDR11 0 0 1 0 0 0 1
WIF1 0 0 1 0 0 0 1
WWOX 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4942 291 10304 5629 577 0 21742
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1336 353 3 2 93 0 1787
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 79 7 111 393 408 0 998
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 913 9 0 0 0 0 922
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 54 113 180 137 22 0 506
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 279 79 0 0 0 0 358
Cancer Genomics Group, Japanese Foundation For Cancer Research 10 37 251 14 1 0 313
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 21 6 94 103 50 0 274
Department of Pathology and Laboratory Medicine, Sinai Health System 53 15 64 38 1 0 171
Genetics Program, Instituto Nacional de Cancer 31 3 23 53 56 0 166
Mendelics 77 4 59 1 16 0 157
GeneKor MSA 126 18 0 0 12 0 156
Molecular Oncology Research Center, Barretos Cancer Hospital 10 7 91 1 0 0 109
Department of Pathology and Molecular Medicine, Queen's University 59 2 0 0 0 0 61
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 14 33 5 1 0 0 53
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 24 0 28 0 0 0 52
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 5 1 28 8 1 0 43
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 16 13 10 0 39
Genetics and Personalized Medicine Clinic, Tartu University Hospital 2 33 0 0 0 0 35
Hereditary Cancer Genetics group, Vall d'Hebron Institute of Oncology 9 6 5 0 14 0 34
Breast Center, Key Laboratory of Carcinogenesis and Translational Research 5 7 20 0 1 0 33
BRCAlab, Lund University 20 3 0 0 0 0 23
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 17 3 0 0 0 0 20
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 3 2 14 0 0 0 19
CSER _CC_NCGL, University of Washington 1 3 8 3 2 0 17
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 16 16
Breast Care Center, Daerim St. Mary`s Hospital 2 8 3 1 0 0 14
Laboratorio de I+D, Fundación Centro Médico de Asturias 2 2 1 6 3 0 14
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 2 1 9 0 0 0 12
Research Institute, Aichi Cancer Center 11 1 0 0 0 0 12
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 8 0 2 0 0 0 10
Dr. Peter K. Rogan Lab, Western University 0 8 1 0 0 0 9
GeneReviews 0 0 0 0 0 8 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 1 0 1 0 0 8
University of Washington Department of Laboratory Medicine, University of Washington 1 1 0 4 2 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 2 2 0 0 7
Cancer Genomics Lab, PINUM Cancer Hospital 6 0 0 0 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 4 0 2 0 0 0 6
Curoverse 6 0 0 0 0 0 6
Lab of Molecular Oncology, Sapienza University of Rome 6 0 0 0 0 0 6
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 6 0 0 0 0 0 6
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 5 0 0 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 2 2 0 0 0 5
Center of Medical Genetics and Primary Health Care 4 1 0 0 0 0 5
Department of Genomics, ADN Uruguay 3 2 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 2 0 0 0 5
Oncological Genetic Counseling Clinic, "Carlo Poma" Hospital 0 0 5 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 0 0 0 0 0 5
Department of Medical Laboratory Technology, Erbil Technical Health and Medical College, Erbil Polytechnic University 2 0 2 0 0 0 4
Veritas Genetics, Veritas Genetics 3 1 0 0 0 0 4
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 2 0 0 0 1 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Illumina Laboratory Services, Illumina 2 0 0 0 0 0 2
Service de Génétique Médicale, Institut Central des Hôpitaux 0 0 2 0 0 0 2
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 1
Center for Breast Cancer, National Cancer Center 1 0 0 0 0 0 1
Centro de Estudios en Salud, Universidad de Narino 0 1 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Dept of Medical Genetics, NHO Tokyo Medical Center 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 0 1 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
International Hereditary Cancer Center PUM, Pomeranian Medical University 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratorios - Biologia Molecular Oncohematologica, Hospital Privado Universitario de Cordoba 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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