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
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 #
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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