ClinVar Miner

Variants studied for Li-Fraumeni syndrome

Included ClinVar conditions (15):
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 established risk allele not provided total
745 431 1290 711 82 1 6 2818

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele not provided total
TP53 697 394 1158 704 73 0 5 2599
CHEK2 25 36 109 2 8 1 1 166
TP53, WRAP53 15 0 12 4 1 0 0 32
LOC126862483, TP53, WRAP53 0 1 8 0 0 0 0 9
LOC126862483, LOC130060171, LOC130060172, TP53, WRAP53 2 0 2 0 0 0 0 4
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, LINC00324, LOC100128288, LOC105371520, LOC106794092, LOC112533665, LOC116276454, LOC121587574, LOC121587575, LOC124904106, LOC126862483, LOC126862484, LOC126862485, LOC129390832, LOC130060171, LOC130060172, LOC130060173, LOC130060174, LOC130060175, LOC130060176, LOC130060177, LOC130060178, LOC130060179, LOC130060180, LOC130060181, LOC130060182, LOC130060183, LOC130060184, LOC130060185, LOC130060186, LOC130060187, LOC130060188, LOC130060189, LOC130060190, LOC130060191, LOC130060192, LOC130060193, LOC130060194, LOC130060195, LOC130060196, LOC130060197, LOC130060198, LOC130060199, LOC130060200, LOC130060201, LOC130060202, LOC130060203, LOC130060204, LOC130060205, LOC130060206, LOC130060207, LOC130060208, LOC130060209, LOC130060210, LOC130060211, LOC130060212, LOC130060213, LOC130060214, LOC130060215, LOC130060216, LOC130060217, LOC130060218, LOC130060219, LOC130060220, LOC130060221, LOC130060222, LOC130060223, LOC130060224, LOC130060225, LOC130060226, LOC130060227, LOC130060228, LOC130060229, LOC130060230, LOC130060231, LOC130060232, LOC130060233, LOC130060234, LOC130060235, LOC130060236, LOC130060237, LOC130060238, LOC130060239, LOC130060240, LOC130060241, LOC130060242, LOC130060243, LOC130060244, LOC130060245, LOC130060246, MIR4314, MIR4521, MIR6883, NAA38, ODF4, PER1, PFAS, RANGRF, RNF227, RPL26, SCARNA21, SLC25A35, SNORD118, TMEM107, TMEM88, TP53, TRAPPC1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, VAMP2, WRAP53 2 0 0 0 0 0 0 2
ACADVL, ACAP1, ALOX12B, ALOX15B, ALOXE3, ATP1B2, AURKB, BORCS6, CD68, CHD3, CHRNB1, CLDN7, CNTROB, CTC1, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FGF11, FXR2, GABARAP, GPS2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, MPDU1, NAA38, NEURL4, NLGN2, PER1, PHF23, PLSCR3, POLR2A, SAT2, SENP3, SHBG, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TMEM102, TMEM107, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53, YBX2, ZBTB4 1 0 0 0 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, NAA38, ODF4, PER1, PFAS, RANGRF, RPL26, SLC25A35, TMEM107, TMEM88, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53 1 0 0 0 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, NAA38, PER1, TMEM107, TMEM88, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53 1 0 0 0 0 0 0 1
DNAH2, EFNB3, TP53, WRAP53 1 0 0 0 0 0 0 1
LOC126862483, LOC130060172, TP53, WRAP53 0 0 1 0 0 0 0 1
LOC130060173, TP53, WRAP53 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 79
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 621 75 1061 614 21 0 0 2392
Genome-Nilou Lab 86 79 241 210 17 0 0 633
Myriad Genetics, Inc. 158 255 40 5 13 0 0 471
All of Us Research Program, National Institutes of Health 14 10 146 90 2 0 0 262
Fulgent Genetics, Fulgent Genetics 26 24 106 7 2 0 0 164
ClinGen TP53 Variant Curation Expert Panel, ClinGen 27 7 24 48 19 0 0 125
Counsyl 5 10 47 35 3 0 0 100
Illumina Laboratory Services, Illumina 1 2 37 14 15 0 0 69
KCCC/NGS Laboratory, Kuwait Cancer Control Center 6 3 12 7 26 0 0 54
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 15 20 3 0 0 0 0 38
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 23 13 0 0 0 0 0 36
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 18 15 0 0 0 0 0 33
OMIM 27 0 0 0 0 0 0 27
Institute of Human Genetics, University of Leipzig Medical Center 12 5 7 0 1 0 0 25
Baylor Genetics 6 3 11 0 0 0 0 20
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 9 3 2 1 2 0 0 17
Mendelics 8 0 5 1 1 0 0 15
Pathway Genomics 8 1 5 0 1 0 0 15
MGZ Medical Genetics Center 5 0 6 0 0 0 0 11
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 3 7 0 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 6 1 3 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 3 4 0 0 0 0 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 5 3 0 0 0 0 0 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 3 3 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 5 2 0 0 0 0 0 7
Department of Genetics, HCU Lozano Blesa 0 5 2 0 0 0 0 7
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 4 2 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 0 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 2 2 1 0 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 2 0 1 0 2 0 0 5
CSER _CC_NCGL, University of Washington 1 0 1 3 0 0 0 5
deCODE genetics, Amgen 0 5 0 0 0 0 0 5
Division of Medical Genetics, University of Washington 0 0 5 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 5 5
Department of Human Genetics, Hannover Medical School 2 2 1 0 0 0 0 5
King Laboratory, University of Washington 4 0 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 2 2 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 1 0 1 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 0 4
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 3 1 0 0 0 0 0 4
University of Washington Department of Laboratory Medicine, University of Washington 1 0 1 2 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 1 0 0 3
3billion, Medical Genetics 2 1 0 0 0 0 0 3
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 3 0 0 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 1 0 0 0 2
New York Genome Center 2 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 0 1
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 1 0 0 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Centre for translational and clinical research, University Hospital Centre Zagreb 0 1 0 0 0 0 0 1
Unit of Medical Genetics, Department of Laboratory Medicine, San Giovanni Calibita Fatebenefratelli Hospital 0 1 0 0 0 0 0 1
Hereditary Cancer Clinic, Medical College of Georgia 1 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 1
Breast Care Center, Daerim St. Mary`s Hospital 1 0 0 0 0 0 0 1

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