ClinVar Miner

Variants studied for Li-Fraumeni syndrome 1

Coded as:
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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
29 13 53 35 6 131

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TP53 29 13 53 35 6 131

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 5 10 47 35 3 100
OMIM 19 0 0 0 0 19
Pathway Genomics 8 1 5 0 1 15
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 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
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 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
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 1

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