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
289 58 435 234 105 15 1011

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Retinoblastoma 211 29 331 132 94 0 759
Hereditary cancer-predisposing syndrome 95 21 148 92 4 0 360
not provided 27 4 19 50 7 2 108
not specified 0 1 2 21 16 13 45
Osteosarcoma; Urinary bladder cancer; Small cell lung cancer; 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 cancer 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
Medulloblastoma 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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 134 20 266 153 74 0 647
Ambry Genetics 95 17 148 92 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 0 0 6 0 13
ITMI 0 0 0 0 0 13 13
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 2 3 1 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 1 0 0 7
Fulgent Genetics,Fulgent Genetics 2 0 4 0 0 0 6
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 1 0 2
Division of Genomic Diagnostics,The 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 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

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