ClinVar Miner

Variants in gene RB1

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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
593 95 1410 1108 215 21 3170

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Retinoblastoma 469 50 1086 861 139 2 2538
Hereditary cancer-predisposing syndrome 164 28 615 410 44 0 1239
not provided 52 7 54 101 80 6 288
Malignant tumor of urinary bladder 8 3 57 0 0 0 68
not specified 0 1 15 25 23 13 68
RB1-related condition 5 1 10 28 3 0 47
Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma 3 0 7 1 0 0 11
Ovarian cancer 0 3 0 0 3 0 6
Hereditary retinoblastoma 3 1 0 0 0 0 4
Lung adenocarcinoma 1 0 1 0 1 0 3
Neoplasm 0 3 0 0 0 0 3
Inborn genetic diseases 0 0 1 1 0 0 2
Lynch syndrome 4 1 1 0 0 0 0 2
Small cell lung carcinoma 1 1 0 0 0 0 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
Hereditary cancer 0 0 1 0 0 0 1
Lip and oral cavity carcinoma 1 0 0 0 0 0 1
Medulloblastoma 0 0 1 0 0 0 1
Neoplasm of ovary 0 0 1 0 0 0 1
See cases 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: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 358 23 1007 837 115 0 2340
Ambry Genetics 164 23 594 403 25 0 1209
GeneDx 29 5 35 90 72 0 231
Illumina Laboratory Services, Illumina 0 0 50 21 22 0 93
Sema4, Sema4 0 1 34 26 23 0 84
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine 65 0 2 0 0 0 67
Baylor Genetics 5 3 57 0 0 0 65
PreventionGenetics, part of Exact Sciences 5 1 10 29 13 0 58
Mendelics 5 3 19 8 15 0 50
Eurofins Ntd Llc (ga) 20 0 10 0 7 0 37
CeGaT Center for Human Genetics Tuebingen 2 0 3 23 5 0 33
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 15 1 16 0 0 0 32
OMIM 28 0 0 0 0 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 7 3 3 12 0 27
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 20 4 0 0 0 0 24
Color Diagnostics, LLC DBA Color Health 0 0 5 3 12 0 20
Genetics and Molecular Pathology, SA Pathology 15 3 2 0 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 0 0 6 4 0 14
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 12 0 14
ITMI 0 0 0 0 0 13 13
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 5 5 2 0 12
Fulgent Genetics, Fulgent Genetics 3 0 7 1 0 0 11
Database of Curated Mutations (DoCM) 0 10 0 0 0 0 10
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University 10 0 0 0 0 0 10
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 3 0 4 2 0 0 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 6 2 1 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 2 3 1 0 7
Genetics Program, Instituto Nacional de Cancer 7 0 0 0 0 0 7
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 6 6
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 1 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 1 3 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 3 0 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
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 3 0 0 0 3
Revvity Omics, Revvity 0 0 3 0 0 0 3
Medgenome Labs Pvt Ltd 1 1 1 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Richard Lifton Laboratory, Yale University School of Medicine 0 2 1 0 0 0 2
Medical Molecular Genetics, University of Birmingham 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Institute of Medical Sciences, Banaras Hindu University 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 1
Arcensus 0 1 0 0 0 0 1

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