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
226 56 241 121 52 15 634

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Retinoblastoma 150 26 200 99 41 0 492
Hereditary cancer-predisposing syndrome 88 20 37 21 2 0 168
not provided 27 4 15 1 5 2 53
not specified 0 1 1 21 16 13 45
Osteosarcoma; Bladder cancer, somatic; 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
Bladder cancer, somatic 1 0 0 0 0 0 1
Medulloblastoma 0 0 1 0 0 0 1
Retinoblastoma, trilateral 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 72 18 164 72 40 0 366
Ambry Genetics 88 15 37 21 2 0 163
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine 65 0 2 0 0 0 67
Illumina Clinical Services Laboratory,Illumina 0 0 25 28 1 0 54
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 20 0 10 0 7 0 37
GeneDx 9 2 1 20 3 0 35
OMIM 28 0 0 0 0 0 28
Integrated Genetics/Laboratory Corporation of America 1 6 0 0 6 0 13
Mendelics 0 0 12 1 0 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 0 0 0 1 10 0 11
Database of Curated Mutations (DoCM) 0 10 0 0 0 0 10
Fulgent Genetics 2 0 4 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 3 1 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 3 0 0 0 0 4
Biesecker Lab/Human Development 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1

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