ClinVar Miner

Variants studied for Hereditary breast ovarian cancer syndrome

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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 established risk allele likely pathogenic, low penetrance pathogenic, low penetrance not provided total
5386 863 10635 5993 905 1 5 1 25 23166

Gene and significance breakdown #

Total genes and gene combinations: 167
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele likely pathogenic, low penetrance pathogenic, low penetrance not provided total
BRCA2 2982 392 6587 3438 350 0 2 0 7 13363
BRCA1 1872 287 2863 1869 233 0 2 1 15 6935
BRCA1, LOC126862571 303 12 518 244 35 0 0 0 3 1089
ATM 7 8 45 54 49 0 0 0 0 162
PALB2 63 28 20 32 15 0 0 0 0 157
BRIP1 18 23 43 22 21 0 0 0 0 125
CHEK2 27 35 29 10 12 1 1 0 0 109
BARD1 11 10 38 26 24 0 0 0 0 107
RAD51D, RAD51L3-RFFL 14 11 50 20 1 0 0 0 0 91
ATM, C11orf65 4 7 24 30 17 0 0 0 0 82
RAD51C 22 11 27 12 3 0 0 0 0 73
BRCA2, LOC106721785 0 0 37 29 6 0 0 0 0 71
NBN 2 3 16 22 21 0 0 0 0 64
TP53 5 8 18 16 17 0 0 0 0 63
FANCD2, LOC107303338 0 0 1 19 36 0 0 0 0 56
MRE11 2 4 15 21 11 0 0 0 0 53
RAD51B 0 1 8 16 13 0 0 0 0 38
BRCA1, LOC111589215 1 0 13 17 4 0 0 0 0 35
RAD54L 0 0 6 22 4 0 0 0 0 32
MLH1 2 1 19 3 1 0 0 0 0 26
CDK12 0 0 1 19 5 0 0 0 0 25
FANCM 0 2 21 1 0 0 0 0 0 24
MSH6 1 0 17 3 0 0 0 0 0 21
BLM 0 3 15 0 0 0 0 0 0 18
MSH2 0 0 15 1 2 0 0 0 0 18
RAD50 2 5 11 0 0 0 0 0 0 18
PPP2R2A 0 0 1 9 6 0 0 0 0 16
FANCD2, FANCD2OS 0 0 2 8 5 0 0 0 0 15
NF1 0 2 13 0 0 0 0 0 0 15
PMS2 2 1 9 3 0 0 0 0 0 15
CDH1 0 0 11 3 0 0 0 0 0 14
BRCA1, LOC110485084, LOC111589216, LOC126862571 8 0 3 0 0 0 0 0 0 11
BRCA1, LOC110485084, LOC111589215, LOC111589216, LOC126862571 7 0 3 0 0 0 0 0 0 10
RECQL 0 1 5 2 0 0 0 0 0 8
BRCA1, LOC110485084, LOC111589215, LOC111589216 2 0 5 0 0 0 0 0 0 7
ABRAXAS1 0 0 6 0 0 0 0 0 0 6
BRCA1, LOC110485084, LOC111589216 4 0 2 0 0 0 0 0 0 6
CDK12, LOC126862553 0 0 0 5 1 0 0 0 0 6
LOC129390903, RAD51C 2 0 4 0 0 0 0 0 0 6
PTEN 0 0 5 1 0 0 0 0 0 6
RINT1 0 1 5 0 0 0 0 0 0 6
LRRC41, RAD54L 0 0 1 3 1 0 0 0 0 5
STK11 0 0 3 2 0 0 0 0 0 5
AOPEP, FANCC 0 0 2 2 0 0 0 0 0 4
BARD1, LOC129935544 0 0 0 0 4 0 0 0 0 4
BRCA1, NBR2 2 0 2 0 0 0 0 0 0 4
BRCA2, LOC112163653, LOC130009524 3 0 1 0 0 0 0 0 0 4
LOC126860438, NBN 0 0 0 3 1 0 0 0 0 4
BRCA2, LOC106721785, LOC130009523 3 0 0 0 0 0 0 0 0 3
BRCA2, LOC106721785, ZAR1L 0 0 1 0 2 0 0 0 0 3
EPCAM 0 0 3 0 0 0 0 0 0 3
FANCD2 0 0 0 0 3 0 0 0 0 3
FMN1 1 0 1 1 0 0 0 0 0 3
PMS1 0 0 1 2 0 0 0 0 0 3
BRCA1, LOC111589215, NBR2 0 0 0 0 2 0 0 0 0 2
FHIT 1 0 0 1 0 0 0 0 0 2
FLCN 0 0 2 0 0 0 0 0 0 2
RAD50, TH2LCRR 0 0 2 0 0 0 0 0 0 2
XRCC2 1 0 1 0 0 0 0 0 0 2
A1CF 0 0 1 0 0 0 0 0 0 1
ABCB1 0 0 1 0 0 0 0 0 0 1
ABCG2 0 0 1 0 0 0 0 0 0 1
ACACA 0 0 1 0 0 0 0 0 0 1
AIM2 0 0 1 0 0 0 0 0 0 1
APC 0 0 0 1 0 0 0 0 0 1
ARL4D, BRCA1, DHX8, ETV4, NBR1, NBR2, TMEM106A 0 0 1 0 0 0 0 0 0 1
BCAR1 0 1 0 0 0 0 0 0 0 1
BCL2L1 0 0 1 0 0 0 0 0 0 1
BIRC6 0 0 1 0 0 0 0 0 0 1
BRCA2, LOC106721785, LOC112163653, LOC130009523, LOC130009524 1 0 0 0 0 0 0 0 0 1
BRIP1, LOC130061360 0 0 0 1 0 0 0 0 0 1
CCNG1 0 0 1 0 0 0 0 0 0 1
CDK20 0 0 1 0 0 0 0 0 0 1
CHD1L 0 0 1 0 0 0 0 0 0 1
COL2A1 0 0 1 0 0 0 0 0 0 1
CPS1 0 1 0 0 0 0 0 0 0 1
CSMD3 0 0 1 0 0 0 0 0 0 1
CTNNA1 1 0 0 0 0 0 0 0 0 1
CTNNA2 1 0 0 0 0 0 0 0 0 1
DCTN5, PALB2 1 0 0 0 0 0 0 0 0 1
DMBT1 0 0 1 0 0 0 0 0 0 1
DROSHA 1 0 0 0 0 0 0 0 0 1
EED 0 0 1 0 0 0 0 0 0 1
EFCAB10, RINT1 0 0 1 0 0 0 0 0 0 1
EGFR 0 0 1 0 0 0 0 0 0 1
EIF2B5 1 0 0 0 0 0 0 0 0 1
ENO2, LOC130007287 0 0 1 0 0 0 0 0 0 1
EP300 0 0 1 0 0 0 0 0 0 1
ERCC6 0 0 1 0 0 0 0 0 0 1
ERCC8 0 0 1 0 0 0 0 0 0 1
ESCO2 0 0 1 0 0 0 0 0 0 1
EXO1 0 0 1 0 0 0 0 0 0 1
EYA2 0 0 1 0 0 0 0 0 0 1
FAN1 0 0 1 0 0 0 0 0 0 1
FAN1, MTMR10 0 0 1 0 0 0 0 0 0 1
FANCC 0 0 1 0 0 0 0 0 0 1
FANCE 0 0 1 0 0 0 0 0 0 1
FEN1 0 0 1 0 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 0 0 1
FOXD1 0 0 1 0 0 0 0 0 0 1
GPHN 0 0 1 0 0 0 0 0 0 1
HERPUD1 1 0 0 0 0 0 0 0 0 1
ID3 0 0 1 0 0 0 0 0 0 1
INSL6, JAK2 0 0 1 0 0 0 0 0 0 1
KIT 0 0 1 0 0 0 0 0 0 1
KRAS 0 1 0 0 0 0 0 0 0 1
KRT19 0 0 1 0 0 0 0 0 0 1
LASP1 0 0 1 0 0 0 0 0 0 1
LCP1 1 0 0 0 0 0 0 0 0 1
LEPROTL1 0 0 1 0 0 0 0 0 0 1
LIFR 0 0 1 0 0 0 0 0 0 1
LOC101928847, NCAM1 0 0 1 0 0 0 0 0 0 1
LOC107988030, MITF 0 1 0 0 0 0 0 0 0 1
LOC126806995, MED28 0 0 1 0 0 0 0 0 0 1
LOC126807401, PLK2 1 0 0 0 0 0 0 0 0 1
LOC126862741, SMAD7 0 0 1 0 0 0 0 0 0 1
LRP12 0 0 1 0 0 0 0 0 0 1
MAFG 0 0 1 0 0 0 0 0 0 1
MELK 0 0 1 0 0 0 0 0 0 1
MEN1 0 1 0 0 0 0 0 0 0 1
MME 0 0 1 0 0 0 0 0 0 1
MUTYH 0 1 0 0 0 0 0 0 0 1
MYO5A 0 0 1 0 0 0 0 0 0 1
MYO7A 0 1 0 0 0 0 0 0 0 1
NBPF3 0 0 1 0 0 0 0 0 0 1
NEK3 0 0 1 0 0 0 0 0 0 1
NEMF 0 0 1 0 0 0 0 0 0 1
NFKB2 0 0 1 0 0 0 0 0 0 1
NOTCH2 0 0 1 0 0 0 0 0 0 1
PAK4 0 0 1 0 0 0 0 0 0 1
PAX7 0 0 1 0 0 0 0 0 0 1
PCSK7 0 0 1 0 0 0 0 0 0 1
PDGFB 0 0 1 0 0 0 0 0 0 1
PLCG1 0 0 1 0 0 0 0 0 0 1
POLQ 0 0 1 0 0 0 0 0 0 1
PTCH1 1 0 0 0 0 0 0 0 0 1
PTPRK 0 0 1 0 0 0 0 0 0 1
PUM1 0 0 1 0 0 0 0 0 0 1
PYROXD1, RECQL 0 0 1 0 0 0 0 0 0 1
RAD50, TH2-LCR, TH2LCRR 0 0 1 0 0 0 0 0 0 1
RAD51D 1 0 0 0 0 0 0 0 0 1
RALGDS 0 0 1 0 0 0 0 0 0 1
RFC1 0 0 1 0 0 0 0 0 0 1
RIPK1 1 0 0 0 0 0 0 0 0 1
RPN1 0 0 1 0 0 0 0 0 0 1
SAV1 0 0 1 0 0 0 0 0 0 1
SLC25A15 1 0 0 0 0 0 0 0 0 1
SLC34A2 0 1 0 0 0 0 0 0 0 1
SP100 0 0 1 0 0 0 0 0 0 1
TACC3 0 0 1 0 0 0 0 0 0 1
TDG 0 0 1 0 0 0 0 0 0 1
TERT 0 0 1 0 0 0 0 0 0 1
TES 0 0 1 0 0 0 0 0 0 1
TFRC 0 0 1 0 0 0 0 0 0 1
TG 0 0 1 0 0 0 0 0 0 1
TLX3 0 0 1 0 0 0 0 0 0 1
TNC 0 0 1 0 0 0 0 0 0 1
TPM4 0 0 1 0 0 0 0 0 0 1
TSHR 0 0 1 0 0 0 0 0 0 1
TYRO3 0 0 1 0 0 0 0 0 0 1
UFL1 0 0 1 0 0 0 0 0 0 1
UNG 0 0 1 0 0 0 0 0 0 1
VRK1 0 1 0 0 0 0 0 0 0 1
VTI1A 0 0 1 0 0 0 0 0 0 1
WDR11 0 0 1 0 0 0 0 0 0 1
WIF1 0 0 1 0 0 0 0 0 0 1
WWOX 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele likely pathogenic, low penetrance pathogenic, low penetrance not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4737 279 9840 5383 569 0 0 1 0 20808
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1177 350 3 2 93 0 0 0 0 1625
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 79 7 111 393 408 0 0 0 0 998
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 913 9 0 0 0 0 0 0 0 922
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 279 79 0 0 0 0 0 0 0 358
Cancer Genomics Group, Japanese Foundation For Cancer Research 10 37 251 14 1 0 0 0 0 313
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 29 59 108 95 14 1 5 0 0 311
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 18 5 77 86 43 0 0 0 0 229
Department of Pathology and Laboratory Medicine, Sinai Health System 53 15 64 38 1 0 0 0 0 171
Genetics Program, Instituto Nacional de Cancer 31 3 23 53 56 0 0 0 0 166
Mendelics 78 3 59 1 16 0 0 0 0 157
Molecular Oncology Research Center, Barretos Cancer Hospital 10 7 91 1 0 0 0 0 0 109
Department of Pathology and Molecular Medicine, Queen's University 59 2 0 0 0 0 0 0 0 61
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 14 33 5 1 0 0 0 0 0 53
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 24 0 28 0 0 0 0 0 0 52
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 5 1 28 8 1 0 0 0 0 43
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 16 13 10 0 0 0 0 39
Hereditary Cancer Genetics group, Vall d'Hebron Institute of Oncology 9 6 5 0 14 0 0 0 0 34
Illumina Laboratory Services, Illumina 2 0 19 12 1 0 0 0 0 33
Breast Center, Key Laboratory of Carcinogenesis and Translational Research 5 7 20 0 1 0 0 0 0 33
GeneKor MSA 22 2 0 0 0 0 0 0 0 24
BRCAlab, Lund University 20 3 0 0 0 0 0 0 0 23
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 17 3 0 0 0 0 0 0 0 20
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 3 2 14 0 0 0 0 0 0 19
CSER _CC_NCGL, University of Washington 1 3 8 3 2 0 0 0 0 17
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 13 13
Breast Care Center, Daerim St. Mary`s Hospital 2 7 3 1 0 0 0 0 0 13
Research Institute, Aichi Cancer Center 11 1 0 0 0 0 0 0 0 12
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 2 2 7 0 0 0 0 0 0 11
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 8 0 2 0 0 0 0 0 0 10
Dr. Peter K. Rogan Lab, Western University 0 8 1 0 0 0 0 0 0 9
GeneReviews 0 0 0 0 0 0 0 0 8 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 1 0 1 0 0 0 0 0 8
University of Washington Department of Laboratory Medicine, University of Washington 1 1 0 4 2 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 2 2 0 0 0 0 0 7
Curoverse 6 0 0 0 0 0 0 0 0 6
Lab of Molecular Oncology, Sapienza University of Rome 6 0 0 0 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 0 0 0 6
Cancer Genomics Lab, PINUM Cancer Hospital 6 0 0 0 0 0 0 0 0 6
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 5 0 0 0 0 0 0 0 0 5
Center of Medical Genetics and Primary Health Care 4 1 0 0 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 0 0 0 0 0 0 0 0 5
Oncological Genetic Counseling Clinic, "Carlo Poma" Hospital 0 0 5 0 0 0 0 0 0 5
Veritas Genetics, Veritas Genetics 3 1 0 0 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 4 4
Department of Medical Laboratory Technology, Erbil Technical Health and Medical College, Erbil Polytechnic University 2 0 2 0 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 0 0 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 0 0 0 0 0 0 2
Service de Génétique Médicale, Institut Central des Hôpitaux 0 0 2 0 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 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 0 0 0 1
Center for Breast Cancer, National Cancer Center 1 0 0 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 0 1 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 0 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 0 1 0 0 0 0 0 0 0 1
International Hereditary Cancer Center PUM, Pomeranian Medical University 0 0 1 0 0 0 0 0 0 1
Centro de Estudios en Salud, Universidad de Narino 0 1 0 0 0 0 0 0 0 1
Laboratorios - Biologia Molecular Oncohematologica, Hospital Privado Universitario de Cordoba 1 0 0 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 1 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 1 0 0 0 0 0 0 0 0 1
Dept of Medical Genetics, NHO Tokyo Medical Center 0 1 0 0 0 0 0 0 0 1

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