ClinVar Miner

Variants studied for Li-Fraumeni syndrome 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
134 117 346 264 44 4 837

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 not provided total
TP53 133 115 343 264 44 4 831
CHEK2 1 2 0 0 0 0 3
LOC126862483, TP53, WRAP53 0 0 3 0 0 0 3

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 86 79 241 210 17 0 633
Counsyl 5 10 47 35 3 0 100
Myriad Genetics, Inc. 14 12 40 5 13 0 84
ClinGen TP53 Variant Curation Expert Panel, ClinGen 4 1 16 36 0 0 57
Illumina Laboratory Services, Illumina 1 1 24 7 14 0 47
KCCC/NGS Laboratory, Kuwait Cancer Control Center 5 0 2 7 12 0 26
OMIM 19 0 0 0 0 0 19
Pathway Genomics 8 1 5 0 1 0 15
Institute of Human Genetics, University of Leipzig Medical Center 7 2 5 0 1 0 15
MGZ Medical Genetics Center 5 0 6 0 0 0 11
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 3 2 0 0 0 11
Baylor Genetics 6 0 3 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 3 0 0 0 7
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 4 2 0 0 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 5 1 0 0 0 0 6
deCODE genetics, Amgen 0 5 0 0 0 0 5
Division of Medical Genetics, University of Washington 0 0 5 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 3 1 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 2 0 3
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 1 0 0 3
3billion 2 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 1 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 1 0 0 2
New York Genome Center 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Centre for translational and clinical research, University Hospital Centre Zagreb 0 1 0 0 0 0 1
Unit of Medical Genetics, Department of Laboratory Medicine, San Giovanni Calibita Fatebenefratelli Hospital 0 1 0 0 0 0 1
Hereditary Cancer Clinic, Medical College of Georgia 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1

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