ClinVar Miner

Variants studied for retinal cell cancer

Included ClinVar conditions (4):
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
726 75 1267 923 156 2 3002

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 707 73 1249 921 147 2 2952
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: 44
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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
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
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 23 2 21 0 0 0 46
OMIM 26 0 0 0 0 0 26
Fulgent Genetics, Fulgent Genetics 4 0 20 1 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
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
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 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
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
Revvity Omics, Revvity 0 0 3 0 0 0 3
Medgenome Labs Pvt Ltd 1 1 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 0 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Neuberg Centre For Genomic Medicine, NCGM 1 1 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
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
Arcensus 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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