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
353 68 634 298 109 15 1345

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Retinoblastoma 279 40 548 221 98 0 1145
Hereditary cancer-predisposing syndrome 95 21 141 99 4 0 360
not provided 27 4 20 53 6 2 111
not specified 0 1 3 21 17 13 47
none provided 1 0 0 4 3 0 8
Osteosarcoma; Urinary bladder cancer; Small cell lung carcinoma; Retinoblastoma 2 0 4 0 0 0 6
Neoplasm 0 3 0 0 0 0 3
Hereditary nonpolyposis colorectal cancer type 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
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
Retinoblastoma, trilateral 1 0 0 0 0 0 1
Urinary bladder cancer 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: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 193 26 483 219 77 0 998
Ambry Genetics 95 17 141 99 4 0 356
Illumina Clinical Services Laboratory,Illumina 0 0 50 21 22 0 93
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine 65 0 2 0 0 0 67
Mendelics 4 1 16 8 12 0 41
GeneDx 9 2 1 25 3 0 40
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 20 0 10 0 7 0 37
OMIM 28 0 0 0 0 0 28
Integrated Genetics/Laboratory Corporation of America 1 6 1 0 8 0 16
ITMI 0 0 0 0 0 13 13
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 9 0 4 0 0 0 13
PreventionGenetics, PreventionGenetics 0 0 0 1 10 0 11
Database of Curated Mutations (DoCM) 0 10 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 0 4 3 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 3 0 0 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 6 2 1 0 0 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 2 3 1 0 7
Genetics Program,Instituto Nacional de Cancer 7 0 0 0 0 0 7
Fulgent Genetics,Fulgent Genetics 2 0 4 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 1 0 0 0 0 5
Baylor Genetics 2 1 1 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 3 0 0 0 0 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 3 0 0 0 3
Medgenome Labs Pvt Ltd 1 1 1 0 0 0 3
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
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 2 2
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 0 0 0 0 0 1
Institute of Medical Sciences, Banaras Hindu University 1 0 0 0 0 0 1

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