ClinVar Miner

Variants in gene RB1

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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
907 198 2107 1519 259 85 4560

Condition and significance breakdown #

Total conditions: 51
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Retinoblastoma 761 108 1562 1154 176 2 3549
Hereditary cancer-predisposing syndrome 219 49 1107 668 55 0 2074
not provided 77 15 142 125 84 6 431
Malignant tumor of urinary bladder 8 4 97 0 0 15 123
Hereditary retinoblastoma 49 5 0 37 15 0 106
not specified 0 1 17 35 28 13 81
RB1-related disorder 5 1 10 31 3 0 50
Neoplasm 8 26 9 0 0 0 43
Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma 7 0 20 3 0 0 30
Sarcoma 0 0 0 0 0 13 13
Acute myeloid leukemia 0 0 0 0 0 8 8
Cervical cancer 0 0 0 0 0 7 7
Hepatocellular carcinoma 0 0 0 0 0 7 7
Ovarian cancer 0 3 0 0 3 0 6
Gastric cancer 0 0 0 0 0 5 5
Glioma susceptibility 1 0 0 0 0 0 5 5
Lung cancer 0 0 0 0 0 5 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Thymoma 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 3 3
Lung adenocarcinoma 1 0 1 0 1 0 3
Retinal dystrophy 0 0 3 0 0 0 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Hereditary cancer 0 0 1 1 0 0 2
Lynch syndrome 4 1 1 0 0 0 0 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 0 0 1 0 0 0 1
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Choroid plexus carcinoma 0 1 0 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 1 0 0 0 0 1
Giant cell glioblastoma 1 0 0 0 0 0 1
Lip and oral cavity carcinoma 1 0 0 0 0 0 1
Malignant glioma 1 0 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Medulloblastoma 0 0 1 0 0 0 1
Melanoma 0 0 0 0 0 1 1
Optic atrophy 0 0 1 0 0 0 1
Ovarian neoplasm 0 0 1 0 0 0 1
See cases 1 0 0 0 0 0 1
Small cell lung carcinoma 1 0 0 0 0 0 1
Squamous cell carcinoma 1 0 0 0 0 0 1
Trilateral retinoblastoma 1 0 0 0 0 0 1
Vulvar adenocarcinoma of mammary gland type 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 429 31 1315 1059 133 0 2967
Ambry Genetics 218 42 1086 662 36 0 2044
All of Us Research Program, National Institutes of Health 0 0 312 163 33 0 508
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine 368 30 42 15 1 0 456
GeneDx 48 13 122 90 72 0 345
Color Diagnostics, LLC DBA Color Health 1 1 135 122 54 0 313
Baylor Genetics 6 4 97 0 0 0 107
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town 38 2 0 37 15 0 92
Sema4, Sema4 0 1 34 26 23 0 84
Illumina Laboratory Services, Illumina 0 0 40 15 22 0 77
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 68 68
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 9 26 15 11 2 0 62
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 38 4 20 0 0 0 62
PreventionGenetics, part of Exact Sciences 5 1 10 32 13 0 61
CeGaT Center for Human Genetics Tuebingen 4 0 2 42 7 0 55
Mendelics 5 3 19 9 15 0 51
Eurofins Ntd Llc (ga) 20 0 10 0 7 0 37
Department of Pathology and Laboratory Medicine, Sinai Health System 2 24 3 5 1 0 35
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 7 4 5 17 0 35
OMIM 28 0 0 0 0 0 28
Breakthrough Genomics, Breakthrough Genomics 0 0 1 8 17 0 26
Fulgent Genetics, Fulgent Genetics 4 0 20 1 0 0 25
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 20 4 0 0 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 0 1 10 7 0 22
Genetics and Molecular Pathology, SA Pathology 15 3 2 0 0 0 20
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 15 4 0 0 0 0 19
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 15 0 17
ITMI 0 0 0 0 0 13 13
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University 10 0 0 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 2 2 2 0 10
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 3 0 4 2 0 0 9
Molecular Pathology, Peter Maccallum Cancer Centre 3 0 4 2 0 0 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 6 2 1 0 0 0 9
Revvity Omics, Revvity 0 0 8 0 0 0 8
Clinical Genetics and Genomics Laboratory, Noor Shahriyar Hospital 7 0 0 0 0 0 7
Genetics Program, Instituto Nacional de Cancer 7 0 0 0 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 1 1 2 2 1 0 7
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 3 0 0 3 0 6
Laboratory of Urology, Hospital Clinic de Barcelona 5 0 1 0 0 0 6
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 6 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 1 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 0 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 4 1 0 0 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 4 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 3 0 0 0 0 4
Dasa 4 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 1 3 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 1 0 0 0 4
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 4 0 0 0 4
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 2 0 1 0 1 0 4
Swedish National ChiCaP Initative, Genomic Medicine Sweden 3 1 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 4
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Medgenome Labs Pvt Ltd 1 1 1 0 0 0 3
Myriad Genetics, Inc. 0 0 0 0 3 0 3
Variantyx, Inc. 3 0 0 0 0 0 3
3billion 1 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 1 0 0 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Medical Molecular Genetics, University of Birmingham 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Richard Lifton Laboratory, Yale University School of Medicine 0 2 1 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 2
Arcensus 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 0 0 0 0 0 1
Exogen Genetic Diagnosis 0 1 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Medical Sciences, Banaras Hindu University 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1

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