ClinVar Miner

Variants studied for Li-Fraumeni syndrome 1

Included ClinVar conditions (3):
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
41 19 89 44 15 194

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TP53 41 18 86 44 15 190
TP53, WRAP53 0 0 3 0 0 3
CHEK2 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 5 10 47 35 3 100
Illumina Clinical Services Laboratory,Illumina 1 0 24 7 14 46
OMIM 25 0 0 0 0 25
Pathway Genomics 8 1 5 0 1 15
Fulgent Genetics,Fulgent Genetics 5 1 4 0 0 10
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
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
ClinGen TP53 Variant Curation Expert Panel,ClinGen 0 0 3 1 0 4
Baylor Genetics 1 0 2 0 0 3
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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 1 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 1
Mendelics 0 0 0 1 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
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
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 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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