ClinVar Miner

Variants in gene RAD50

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
375 169 2391 1308 105 43 4120

Condition and significance breakdown #

Total conditions: 41
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 363 86 2326 1283 54 0 4009
Nijmegen breakage syndrome-like disorder 47 81 187 38 25 11 349
not provided 17 12 184 68 47 15 313
not specified 0 0 63 38 28 0 121
RAD50-related disorder 4 6 24 31 2 0 67
Familial cancer of breast 1 1 20 3 13 2 40
Hereditary breast ovarian cancer syndrome 2 5 11 0 0 0 18
Breast and/or ovarian cancer 4 1 0 0 0 0 5
Ovarian cancer 0 1 0 0 4 0 5
Gastric cancer 0 0 0 0 0 4 4
Hepatocellular carcinoma 0 3 0 0 0 0 3
Sarcoma 0 0 0 0 0 3 3
Breast carcinoma 2 0 0 0 0 0 2
Lymphoma 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Neoplasm 0 1 1 0 0 0 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Breast-ovarian cancer, familial, susceptibility to, 1; Nijmegen breakage syndrome-like disorder 0 0 0 0 0 1 1
Breast-ovarian cancer, familial, susceptibility to, 2 0 0 1 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 3 0 0 1 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Diffuse midline glioma, H3 K27M-mutant 0 1 0 0 0 0 1
Familial cancer of breast; Nijmegen breakage syndrome-like disorder 0 0 0 0 0 1 1
Lung sarcomatoid carcinoma 0 0 1 0 0 0 1
Malignant tumor of breast 0 0 1 0 0 0 1
Medulloblastoma 0 1 0 0 0 0 1
Meningioma 0 0 1 0 0 0 1
Myoepithelial tumor 0 0 1 0 0 0 1
Neoplasm of the skin 1 0 0 0 0 0 1
Neuroepithelial tumor, PATZ1 fusion-positive 0 0 1 0 0 0 1
Nijmegen breakage syndrome-like disorder; Breast cancer, susceptibility to 0 0 0 0 0 1 1
Nijmegen breakage syndrome-like disorder; Hereditary cancer-predisposing syndrome 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Premature ovarian insufficiency 0 0 1 0 0 0 1
Prostate cancer 0 0 1 0 0 0 1
See cases 0 1 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 67
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 313 61 1728 1013 49 0 3164
Ambry Genetics 173 40 1590 715 10 0 2528
Quest Diagnostics Nichols Institute San Juan Capistrano 9 4 145 32 13 0 203
Baylor Genetics 18 51 102 0 0 0 171
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 6 57 34 25 0 125
GeneDx 2 3 41 13 51 0 110
Fulgent Genetics, Fulgent Genetics 9 9 57 2 0 0 77
Sema4, Sema4 3 6 35 25 7 0 76
PreventionGenetics, part of Exact Sciences 4 6 24 31 3 0 68
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 1 21 3 20 0 45
Counsyl 2 6 9 12 10 0 39
CeGaT Center for Human Genetics Tuebingen 4 5 9 15 1 0 34
Revvity Omics, Revvity 22 2 6 0 0 0 30
GeneKor MSA 6 0 17 1 4 0 28
Breakthrough Genomics, Breakthrough Genomics 0 0 5 11 0 0 16
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 16 16
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 15 15
Genetic Services Laboratory, University of Chicago 1 0 8 3 3 0 15
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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 10 0 0 0 11
Genesis Genomics 5 5 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 4 0 0 0 8
CZECANCA consortium 4 4 0 0 0 0 7
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 1 0 0 4 0 5
Mendelics 0 0 1 3 1 0 5
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 2 2 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 1 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 2 0 0 4
Dasa 1 0 1 1 0 0 3
Eurofins Ntd Llc (ga) 0 0 2 1 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 2 0 3
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 2 0 0 0 3
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 3 0 0 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
Vantari Genetics 0 0 2 1 0 0 3
Biotechnology, Institute of Science, Nirma University 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 0 0 2 0 0 0 2
OMIM 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 0 1 0 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Salgia Laboratory, City of Hope 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 0 1 0 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.