ClinVar Miner

Variants studied for Li-Fraumeni syndrome

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 total
218 80 655 142 16 1077

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 209 77 647 137 15 1051
TP53, WRAP53 6 1 8 5 1 21
CHEK2 2 2 0 0 0 4
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: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 208 58 632 122 10 1030
ClinGen TP53 Variant Curation Expert Panel,ClinGen 14 9 5 9 6 43
Mendelics 9 4 15 0 0 28
Illumina Clinical Services Laboratory,Illumina 0 0 13 7 1 21
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 11 7 0 0 0 18
Integrated Genetics/Laboratory Corporation of America 9 3 0 0 0 12
Genetic Services Laboratory, University of Chicago 2 3 0 0 0 5
CSER _CC_NCGL, University of Washington 1 0 1 3 0 5
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 3 0 4
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital 1 0 0 0 0 1

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