Variants studied for Li-Fraumeni syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
220	83	656	149	16	1080

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	211	80	648	144	15	1054
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: 13

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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	10	12	17	6	59
Mendelics	9	4	14	0	0	27
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	10	3	0	0	0	13
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London	1	2	7	0	0	10
Genetic Services Laboratory,University of Chicago	2	3	0	0	0	5
CSER _CC_NCGL, University of Washington	1	0	1	3	0	5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	3	1	0	0	0	4
University of Washington Department of Laboratory Medicine, University of Washington	1	0	1	2	0	4
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital	0	0	0	1	2	3
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital	1	0	0	0	0	1

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