ClinVar Miner

Variants studied for Ovarian neoplasm

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
257 200 50 34 15 6 548

Gene and significance breakdown #

Total genes and gene combinations: 34
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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 12 9 1 0 0 0 22
MT-CYB 0 19 0 3 1 0 19
PIK3CA 9 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
MAP3K1 4 1 0 0 0 0 5
MSH6 4 1 0 0 0 0 5
MSH2 3 0 1 0 0 0 4
MT-TT 0 4 2 0 0 0 4
PMS2 0 0 0 1 2 0 3
ERBB2 1 0 0 0 0 1 2
KRAS 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
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
CTNNB1, LOC126806658 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: 23
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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
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

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