ClinVar Miner

Variants in gene RAD50

See also:
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
224 74 1303 522 35 13 2076

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 220 58 1285 466 26 0 2011
not provided 6 4 33 101 6 13 159
Nijmegen breakage syndrome-like disorder 7 9 38 15 12 0 79
not specified 0 0 20 23 16 0 53
Hereditary breast and ovarian cancer syndrome 0 3 11 0 0 0 14
Breast and/or ovarian cancer 4 1 0 0 0 0 5
Familial cancer of breast 0 0 2 0 0 0 2
Malignant tumor of prostate 0 0 1 0 0 0 1
Premature ovarian insufficiency 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 180 41 1051 382 24 0 1678
Ambry Genetics 125 31 710 288 10 0 1164
Integrated Genetics/Laboratory Corporation of America 0 4 14 19 18 0 55
GeneDx 2 1 30 1 8 0 42
Counsyl 2 6 9 12 10 0 39
Fulgent Genetics,Fulgent Genetics 2 0 28 0 0 0 30
GeneKor MSA 6 0 17 1 0 0 24
Harris Lab, University of Minnesota 0 0 0 0 0 13 13
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 1 11 0 0 0 12
Genetic Services Laboratory, University of Chicago 1 0 6 3 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 2 3 4 1 0 0 10
Mendelics 0 0 1 3 1 0 5
CZECANCA consortium 4 1 0 0 0 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 1 0 0 3
Vantari Genetics 0 0 2 1 0 0 3
OMIM 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 2 0 0 2
Liquid Biopsy and Precision Medicine Group,Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 0 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
PreventionGenetics, PreventionGenetics 0 0 0 0 1 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 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.