ClinVar Miner

Variants studied for Li-Fraumeni syndrome

Included ClinVar conditions (12):
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
668 403 1191 655 56 1 6 2585

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 626 378 1105 649 55 0 5 2430
CHEK2 20 24 64 1 0 1 1 104
TP53, WRAP53 14 0 11 4 1 0 0 30
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: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele not provided total
Invitae 544 78 1018 554 21 0 0 2215
Genome-Nilou Lab 86 79 241 210 17 0 0 633
Myriad Genetics, Inc. 156 252 40 5 13 0 0 466
All of Us Research Program, National Institutes of Health 9 4 123 77 2 0 0 215
ClinGen TP53 Variant Curation Expert Panel, ClinGen 18 11 27 58 5 0 0 119
Counsyl 5 10 47 35 3 0 0 100
Fulgent Genetics, Fulgent Genetics 23 6 55 6 2 0 0 92
Illumina Laboratory Services, Illumina 1 2 37 14 15 0 0 69
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 18 15 0 0 0 0 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 11 0 0 0 0 0 32
KCCC/NGS Laboratory, Kuwait Cancer Control Center 5 1 3 7 12 0 0 28
OMIM 27 0 0 0 0 0 0 27
Baylor Genetics 6 3 11 0 0 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 10 4 5 0 1 0 0 20
Mendelics 8 0 5 1 1 0 0 15
Pathway Genomics 8 1 5 0 1 0 0 15
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 3 2 1 2 0 0 14
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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 3 4 0 0 0 0 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 3 3 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 5 1 1 0 0 0 0 7
Department of Genetics, HCU Lozano Blesa 0 5 2 0 0 0 0 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 2 0 0 0 0 0 6
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 4 2 0 0 0 0 0 6
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 0 4
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 2 1 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 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
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 1
Breast Care Center, Daerim St. Mary`s Hospital 1 0 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 0 1

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