ClinVar Miner

Variants studied for hereditary retinoblastoma

Included ClinVar conditions (3):
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
714 80 1237 909 155 2 2948

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RB1 695 78 1219 907 146 2 2898
LPAR6, RB1 9 0 1 2 9 0 21
RB1, RB1-DT 0 1 7 0 0 0 8
ITM2B, MED4, NUDT15, RB1 3 0 1 0 0 0 4
ITM2B, LPAR6, 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
ITM2B, LPAR6, MED4, NUDT15, RB1, SUCLA2 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: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 384 25 1017 837 115 0 2378
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine 368 31 43 15 1 0 458
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
Mendelics 4 1 15 10 22 0 52
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 16 2 20 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 15 3 2 0 0 0 20
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 12 0 14
Fulgent Genetics, Fulgent Genetics 3 0 7 1 0 0 11
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University 10 0 0 0 0 0 10
Baylor Genetics 5 2 2 0 0 0 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 6 2 1 0 0 0 9
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
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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 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
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Arcensus 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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