ClinVar Miner

Variants studied for Retinoblastoma

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
782 111 1603 1156 188 2 3624

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RB1 761 108 1562 1154 176 2 3549
RB1, RB1-DT 1 2 30 0 3 0 32
LPAR6, RB1 9 0 1 2 9 0 21
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
​intergenic 1 0 0 0 0 0 1
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: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 448 31 1346 1059 135 0 3019
All of Us Research Program, National Institutes of Health 0 0 312 163 33 0 508
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine 368 31 43 15 1 0 458
Color Diagnostics, LLC DBA Color Health 1 1 136 122 55 0 315
Illumina Laboratory Services, Illumina 0 0 40 15 22 0 77
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 39 5 25 0 0 0 69
Mendelics 4 1 15 10 22 0 52
Department of Pathology and Laboratory Medicine, Sinai Health System 1 25 2 2 1 0 31
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 20 5 0 0 0 0 25
OMIM 25 0 0 0 0 0 25
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 15 0 17
Genetics and Molecular Pathology, SA Pathology 12 2 2 0 0 0 16
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
Molecular Pathology, Peter Maccallum Cancer Centre 3 0 4 2 0 0 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 6 2 1 0 0 0 9
Revvity Omics, Revvity 0 0 8 0 0 0 8
Clinical Genetics and Genomics Laboratory, Noor Shahriyar Hospital 7 0 0 0 0 0 7
Genetics Program, Instituto Nacional de Cancer 7 0 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 1 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 1 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 4
Swedish National ChiCaP Initative, Genomic Medicine Sweden 3 1 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 3
Medgenome Labs Pvt Ltd 1 1 1 0 0 0 3
Myriad Genetics, Inc. 0 0 0 0 3 0 3
Variantyx, Inc. 3 0 0 0 0 0 3
3billion 1 1 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Medical Molecular Genetics, University of Birmingham 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 2
Arcensus 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 0 0 0 0 0 1
Exogen Genetic Diagnosis 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1

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