ClinVar Miner

Variants studied for Neoplasm of ovary

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 not provided total
267 205 50 34 15 8 562

Gene and significance breakdown #

Total genes and gene combinations: 37
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TP53 96 137 0 0 0 2 230
BRIP1 5 10 35 30 11 0 91
BRCA1 57 3 0 0 0 0 60
BRCA2 33 1 3 0 0 0 37
PTEN 14 9 1 0 0 0 23
MT-CYB 0 19 0 3 1 0 19
PIK3CA 10 7 0 0 0 0 14
RAD51C 9 2 3 0 0 0 14
BRCA1, LOC126862571 8 1 0 0 0 0 9
RAD51D, RAD51L3-RFFL 6 2 0 0 0 0 8
KRAS 6 0 0 0 0 1 7
MAP3K1 4 1 0 0 0 0 5
MSH6 4 1 0 0 0 0 5
CTNNB1, LOC126806658 1 4 0 0 0 0 4
MSH2 3 0 1 0 0 0 4
MT-TT 0 4 2 0 0 0 4
BRAF 2 1 0 0 0 0 3
PMS2 0 0 0 1 2 0 3
ERBB2 1 0 0 0 0 1 2
PALB2 0 0 2 0 0 0 2
PRKN 1 1 0 0 0 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
AKT1 1 0 0 0 0 0 1
ATM 1 0 0 0 0 0 1
BARD1 0 1 0 0 0 0 1
CDH1 1 0 0 0 0 0 1
CHEK2 1 0 0 0 0 0 1
FGFR3 0 0 0 0 0 1 1
GATA3 0 0 0 0 0 1 1
LOC130061311, RAD51C 1 0 0 0 0 0 1
MRE11 0 0 1 0 0 0 1
OPCML 1 0 0 0 0 0 1
RB1 0 0 1 0 0 0 1
RRAS2 1 0 0 0 0 0 1
SMARCA4 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 220 166 0 0 0 0 386
Counsyl 1 8 35 30 11 0 85
Department of Zoology Govt. MVM College 0 24 0 0 0 0 24
Database of Curated Mutations (DoCM) 17 5 0 0 0 2 24
University Health Network, Princess Margaret Cancer Centre 9 1 0 0 0 0 10
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 2 0 4
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 3 1 0 0 0 0 4
China-NCC-Department of Gynecologic Oncology, Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College 4 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 3 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 1 0 1 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
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
Division of Medical Genetics, University of Washington 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 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.