ClinVar Miner

Variants studied for breast-ovarian cancer, familial, susceptibility to, 4

Included ClinVar conditions (1):
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 risk factor not provided total
148 107 701 465 25 6 6 1378

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RAD51D, RAD51L3-RFFL 127 103 694 464 24 6 6 1344
RAD51D 21 4 5 0 0 0 0 30
LOC130060715, RAD51D, RAD51L3-RFFL 0 0 0 1 1 0 0 2
FNDC8 0 0 1 0 0 0 0 1
FNDC8, LOC130060715, RAD51D, RAD51L3-RFFL 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 103 51 644 439 22 0 0 1259
Baylor Genetics 20 21 142 1 0 0 0 184
Myriad Genetics, Inc. 75 43 22 10 9 0 0 159
Counsyl 6 13 23 27 4 0 0 73
Mendelics 1 4 14 12 0 0 0 31
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge 10 6 5 1 0 0 0 22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 6 8 4 0 0 20
Fulgent Genetics, Fulgent Genetics 5 2 10 1 0 0 0 18
MGZ Medical Genetics Center 2 2 10 0 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 3 1 5 0 1 0 0 10
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 2 5 0 0 0 0 7
OMIM 0 0 0 0 0 6 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 2 1 3 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 0 5 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 0 0 4 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 4 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 3 0 0 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 0 2
BRCAlab, Lund University 1 1 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 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.