ClinVar Miner

Variants studied for Retinoblastoma

Coded as:
Minimum submission review status: Collection method:
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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
483 53 1206 900 155 2 2673

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RB1 469 51 1188 898 146 2 2628
LPAR6, RB1 6 0 1 2 9 0 18
RB1, RB1-DT 0 1 7 0 0 0 8
ITM2B, LPAR6, MED4, NUDT15, RB1 2 0 1 0 0 0 3
ITM2B, MED4, NUDT15, RB1 2 0 1 0 0 0 3
PTCH1 0 0 3 0 0 0 3
LOC130009754, LOC130009755, LPAR6, RB1 2 0 0 0 0 0 2
CDKN2A 0 0 1 0 0 0 1
FANCM 0 1 0 0 0 0 1
ITM2B, LOC124885096, LOC130009751, LOC130009752, LOC130009753, LOC130009754, LOC130009755, RB1, RB1-DT 1 0 0 0 0 0 1
LOC130009754, LOC130009755, RB1 1 0 0 0 0 0 1
MAX 0 0 1 0 0 0 1
MUTYH 0 0 1 0 0 0 1
NF1 0 0 1 0 0 0 1
PALB2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 371 24 1016 837 115 0 2363
All of Us Research Program, National Institutes of Health 0 0 250 125 31 0 406
Illumina Laboratory Services, 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 15 10 22 0 52
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 15 2 21 0 0 0 38
OMIM 25 0 0 0 0 0 25
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 20 5 0 0 0 0 25
Color Diagnostics, LLC DBA Color Health 0 0 5 3 12 0 20
Genetics and Molecular Pathology, SA Pathology 12 2 2 0 0 0 16
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 12 0 14
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University 10 0 0 0 0 0 10
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 6 2 1 0 0 0 9
Baylor Genetics 4 2 2 0 0 0 8
Genetics Program, Instituto Nacional de Cancer 7 0 0 0 0 0 7
Database of Curated Mutations (DoCM) 0 6 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 1 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 3
Medgenome Labs Pvt Ltd 1 1 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Medical Molecular Genetics, University of Birmingham 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
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 Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Arcensus 0 1 0 0 0 0 1

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