ClinVar Miner

Variants studied for ovarian cancer

Included ClinVar conditions (29):
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 not provided total
343 651 193 72 393 13 1631

Gene and significance breakdown #

Total genes and gene combinations: 151
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TP53 97 257 2 0 0 2 352
BRIP1 25 40 107 34 11 2 213
BRCA1 73 11 2 1 4 0 91
BRCA2 35 14 9 1 14 0 71
CDH1 7 5 16 10 4 1 42
PRKN 5 7 8 5 3 0 26
PTEN 14 9 3 0 1 0 26
RECQL4 0 12 0 0 14 0 26
PIK3CA 12 15 3 0 0 0 23
APC 0 7 0 0 14 0 21
MSH6 5 4 1 0 11 0 21
RAD51C 11 6 3 0 1 0 21
MT-CYB 0 19 0 3 1 0 19
PALB2 0 3 6 3 6 1 19
TSC2 0 11 0 0 7 0 18
ATM 3 0 4 1 8 0 16
ALK 0 5 0 0 10 0 15
AR 0 8 0 0 7 0 15
ATM, C11orf65 1 3 5 0 6 0 15
BRCA1, LOC126862571 13 2 0 0 0 0 15
MUC16 0 15 0 0 0 0 15
BARD1 0 5 3 1 5 0 14
RET 0 4 0 0 10 0 14
MSH2 3 3 3 0 4 0 13
PMS2 0 4 0 1 8 0 13
RAD51D, RAD51L3-RFFL 9 3 0 0 0 1 13
WRN 0 4 0 0 9 0 13
DICER1 0 4 0 0 8 0 12
FLCN 0 4 0 0 8 0 12
BLM 0 3 0 0 8 0 11
PDGFRA 0 5 0 0 6 0 11
PTCH1 0 4 0 0 7 0 11
EGFR 0 4 0 0 6 0 10
FBXW7 0 10 0 0 0 0 10
MLH3 0 4 0 0 6 0 10
TSHR 0 6 0 0 4 0 10
AXIN2 0 3 0 0 6 0 9
BIVM-ERCC5, ERCC5 0 5 0 0 4 0 9
CHEK2 3 0 6 0 0 0 9
EXT1 0 2 0 0 6 0 8
FANCA 0 2 0 0 6 0 8
FANCG 0 2 0 0 6 0 8
KIT 0 2 0 0 6 0 8
MSR1 0 5 0 0 3 0 8
PMS1 0 2 0 0 6 0 8
TSC1 0 1 0 0 7 0 8
CTNNB1, LOC126806658 2 5 0 1 0 0 7
ERCC3 0 1 0 0 6 0 7
EXT2 0 4 0 0 3 0 7
KRAS 6 0 0 0 0 1 7
MET 0 2 0 0 5 0 7
RB1 0 3 1 0 3 0 7
STK11 0 0 1 2 4 0 7
AOPEP, FANCC 0 4 1 0 1 0 6
BRAF 2 4 0 0 0 0 6
ELAC2 0 2 0 0 4 0 6
ERCC4 0 2 0 0 4 0 6
FANCD2, LOC107303338 0 4 0 0 2 0 6
MLH1 0 0 1 0 5 0 6
MRE11 0 1 1 0 4 0 6
NBN 2 2 0 0 2 0 6
B2M 0 5 0 0 0 0 5
FANCE 0 2 0 0 3 0 5
FH 0 5 0 0 0 0 5
MAP3K1 4 1 0 0 0 0 5
NF1 0 0 0 0 5 0 5
NRAS 0 5 0 0 0 0 5
RAD50 0 1 0 0 4 0 5
RNASEL 0 2 0 0 3 0 5
XPC 0 3 0 0 2 0 5
BUB1B 0 1 0 0 3 0 4
CDKN1B 0 2 0 0 2 0 4
CTNNB1, LOC126806659 2 0 1 1 0 0 4
ERBB2 1 3 0 0 0 1 4
ERCC2 0 3 0 0 1 0 4
HMMR 0 2 0 0 2 0 4
HRAS, LRRC56 0 3 0 0 1 0 4
MT-TT 0 4 2 0 0 0 4
TRIM24 0 1 0 0 3 0 4
FANCD2, FANCD2OS 0 1 0 0 2 0 3
FANCF 0 1 0 0 2 0 3
LOC107982234, WT1 0 1 0 0 2 0 3
MXI1 0 2 0 0 1 0 3
NTRK1 0 3 0 0 0 0 3
PPP2R1A 0 3 0 0 0 0 3
RAD50, TH2LCRR 0 1 0 0 2 0 3
SDHAF2 0 1 0 0 2 0 3
SDHB 0 0 0 0 3 0 3
TRIM33 0 0 0 0 3 0 3
AKT1 1 0 0 1 0 0 2
CDKN2A 0 1 0 0 1 0 2
CTNNB1 0 0 0 2 0 0 2
CYLD 0 0 0 0 2 0 2
FANCA, ZNF276 0 1 0 0 1 0 2
FANCE, LOC129996245 0 0 0 0 2 0 2
HNF1A 0 1 0 0 1 0 2
HNF1B 0 1 0 0 1 0 2
KIF1B 0 1 0 0 1 0 2
KLC1, XRCC3 0 0 0 0 2 0 2
LOC110011216, PHOX2B 0 0 0 0 2 0 2
LOC126859871, PRKN 0 0 0 2 0 0 2
LOC129390903, RAD51C 0 1 0 0 1 0 2
LOC130062899, STK11 0 0 1 1 0 0 2
MUTYH 1 0 0 0 1 0 2
POLE 1 0 0 1 0 0 2
RAD50, TH2-LCR, TH2LCRR 0 2 0 0 0 0 2
SLC49A4 0 0 0 0 2 0 2
TMEM127 0 2 0 0 0 0 2
VHL 0 0 0 0 2 0 2
XPA 0 1 0 0 1 0 2
​intergenic 0 1 1 0 0 0 1
ABCB1 0 0 0 0 0 1 1
ABCG2 0 0 0 0 0 1 1
AR, LOC109504725 0 0 0 0 1 0 1
BIVM-ERCC5, ERCC5, LOC126861834 0 0 0 0 1 0 1
BMPR1A 0 1 0 0 0 0 1
BUB1B, BUB1B-PAK6 0 0 0 0 1 0 1
C12orf43, HNF1A 0 0 0 0 1 0 1
CBL 0 1 0 0 0 0 1
CDC73 0 0 0 0 1 0 1
CDH1, LOC130059290 0 0 0 0 1 0 1
CDK4, TSPAN31 0 0 0 0 1 0 1
CDKN2A, LOC130001603 1 0 0 0 0 0 1
DDB2, LOC126861205 0 0 0 0 1 0 1
EPCAM 0 0 0 0 1 0 1
ERCC4, LOC130058543 0 1 0 0 0 0 1
FANCC 0 0 1 0 0 0 1
FANCM 1 0 0 0 0 0 1
FGFR3 0 0 0 0 0 1 1
GATA3 0 0 0 0 0 1 1
GPC3 0 0 0 0 1 0 1
LOC100507346, PTCH1 0 0 0 0 1 0 1
LOC126860438, NBN 0 0 1 0 0 0 1
LOC129931243, TRIM33 0 0 0 0 1 0 1
LOC129937389, SLC49A4 0 0 0 0 1 0 1
LOC129999452, TRIM24 0 0 0 0 1 0 1
LOC130061311, RAD51C 1 0 0 0 0 0 1
MEN1 0 0 0 0 1 0 1
NQO2 0 0 0 0 1 0 1
OPCML 1 0 0 0 0 0 1
PHB1 0 0 0 0 1 0 1
PHOX2B 0 0 0 0 1 0 1
POLD1 0 0 0 1 0 0 1
PPM1D 0 1 0 0 0 0 1
RAD51 0 0 0 0 1 0 1
RRAS2 1 0 0 0 0 0 1
SDHC 0 0 0 0 1 0 1
SMARCA4 0 0 0 0 1 0 1
SMARCB1 0 1 0 0 0 0 1
WT1 0 0 0 0 1 0 1
XRCC3 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 231 0 0 370 0 601
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 220 166 0 0 0 0 386
Database of Curated Mutations (DoCM) 17 231 0 0 0 2 246
Counsyl 8 33 103 34 11 0 189
Fulgent Genetics, Fulgent Genetics 14 4 28 22 5 0 73
Department of Pathology and Laboratory Medicine, Sinai Health System 5 0 32 12 3 0 52
Department of Zoology Govt. MVM College 0 24 0 0 0 0 24
3DMed Clinical Laboratory Inc 11 1 6 1 0 0 19
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 13 3 0 0 0 0 16
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University 0 15 0 0 0 0 15
University Health Network, Princess Margaret Cancer Centre 12 1 1 0 0 0 14
BRCAlab, Lund University 11 2 0 0 0 0 13
OMIM 7 0 0 0 0 0 7
Leiden Open Variation Database 4 0 3 0 0 0 7
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 0 3 3 1 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 0 0 0 0 0 6
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 6 6
CSER _CC_NCGL, University of Washington 1 0 5 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 1 2 0 6
Genetics and Molecular Pathology, SA Pathology 0 0 4 1 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 1 0 0 0 5
China-NCC-Department of Gynecologic Oncology, Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College 5 0 0 0 0 0 5
GeneKor MSA 4 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 1 0 0 0 4
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 3 1 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 4
King Laboratory, University of Washington 3 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 0 0 0 0 2
Western Connecticut Health Network, Rudy L. Ruggles Biomedical Research Institute 1 0 1 0 0 0 2
Human Cancer Genomic Research, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 0 1 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 1
ACT Genomics, 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Swisher Lab, University of Washington 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 0 0 0 0 0 1

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