ClinVar Miner

Variants studied for Li-Fraumeni syndrome

Included ClinVar conditions (8):
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
309 117 838 237 25 1440

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 284 110 788 232 24 1353
CHEK2 14 6 36 0 0 55
TP53, WRAP53 10 1 14 5 1 31
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: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 271 71 735 187 11 1275
Counsyl 5 10 47 35 3 100
Illumina Clinical Services Laboratory,Illumina 1 0 37 14 15 67
ClinGen TP53 Variant Curation Expert Panel,ClinGen 14 10 15 18 6 63
Fulgent Genetics,Fulgent Genetics 12 2 37 0 0 51
OMIM 29 0 0 0 0 29
Mendelics 9 4 14 1 0 28
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 11 7 0 0 0 18
Pathway Genomics 8 1 5 0 1 15
Integrated Genetics/Laboratory Corporation of America 10 4 0 0 0 14
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 3 7 0 0 11
Baylor Genetics 1 0 7 0 0 8
Genetic Services Laboratory, University of Chicago 2 3 1 0 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 2 0 0 0 6
CSER _CC_NCGL, University of Washington 1 0 1 3 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 1 5
Division of Medical Genetics, University of Washington 0 0 5 0 0 5
King Laboratory,University of Washington 4 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 4
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 3 1 0 0 0 4
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 1 0 1 2 4
University of Washington Department of Laboratory Medicine, University of Washington 1 0 1 2 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 2 3
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 1 1 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 1 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 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
Centre for translational and clinical research,Clinical hospital centre Zagreb 0 1 0 0 0 1
Unit of Medical Genetics, Department of Laboratory Medicine,San Giovanni Calibita Fatebenefratelli Hospital 0 1 0 0 0 1

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