ClinVar Miner

Variants studied for Li-Fraumeni syndrome

Included ClinVar conditions (7):
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 total
175 82 551 98 13 869

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TP53 160 77 513 93 12 806
CHEK2 11 4 33 0 0 47
TP53, WRAP53 3 1 5 5 1 15
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, LINC00324, LOC100128288, LOC106794092, LOC112533665, LOC116276454, 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 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 139 47 471 30 1 688
Counsyl 5 10 47 35 3 100
Fulgent Genetics,Fulgent Genetics 12 2 37 0 0 51
ClinGen TP53 Variant Curation Expert Panel,ClinGen 14 9 5 9 6 43
Illumina Clinical Services Laboratory,Illumina 1 0 19 19 3 42
OMIM 29 0 0 0 0 29
Mendelics 9 4 16 0 0 29
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 10 8 0 0 0 18
Pathway Genomics 8 1 5 0 1 15
Integrated Genetics/Laboratory Corporation of America 5 3 0 0 0 8
Genetic Services Laboratory, University of Chicago 2 3 1 0 0 6
CSER _CC_NCGL, University of Washington 1 0 1 3 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 4
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 3 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 2 3
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 1
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital 1 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 0 1 0 0 0 1

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