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Items: 1 to 100 of 368

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:6439205
GRCh38:
Chr12:6330039
TNFRSF1AP113T, P158T, P266TTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Jan 12, 2023)
no assertion criteria provided
2.
GRCh37:
Chr12:6443338
GRCh38:
Chr12:6334172
TNFRSF1AE38QTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Mar 11, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr12:6443372
GRCh38:
Chr12:6334206
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jun 17, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr12:6439058
GRCh38:
Chr12:6329892
TNFRSF1AA162T, A207T, A315TTNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Oct 26, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr12:6443012
GRCh38:
Chr12:6333846
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jan 13, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr12:6438655
GRCh38:
Chr12:6329489
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Oct 17, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr12:6438706
GRCh38:
Chr12:6329540
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Mar 22, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr12:6438686
GRCh38:
Chr12:6329520
TNFRSF1AR234Q, R279Q, R387QTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Jul 24, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr12:6438930
GRCh38:
Chr12:6329764
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Mar 18, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr12:6443237
GRCh38:
Chr12:6334071
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jul 13, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr12:6442640
GRCh38:
Chr12:6333474
TNFRSF1AD122G, D14GTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(May 5, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr12:6439097-6439098
GRCh38:
Chr12:6329931-6329932
TNFRSF1AG149fs, G194fs, G302fsTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Jun 2, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr12:6443402
GRCh38:
Chr12:6334236
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Jun 15, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr12:6443429
GRCh38:
Chr12:6334263
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Apr 9, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr12:6439136
GRCh38:
Chr12:6329970
TNFRSF1AP136S, P181S, P289STNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Jul 30, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr12:6442668
GRCh38:
Chr12:6333502
TNFRSF1AE113K, E5KTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Mar 17, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr12:6443325
GRCh38:
Chr12:6334159
TNFRSF1AS42TTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Oct 5, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr12:6440108
GRCh38:
Chr12:6330942
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Oct 17, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr12:6439167
GRCh38:
Chr12:6330001
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jun 9, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr12:6438649
GRCh38:
Chr12:6329483
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Feb 14, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr12:6440069
GRCh38:
Chr12:6330903
TNFRSF1AT192M, T84M, T39MTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Aug 19, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr12:6442906
GRCh38:
Chr12:6333740
TNFRSF1AK107QTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Nov 12, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr12:6442888
GRCh38:
Chr12:6333722
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Dec 18, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr12:6439790
GRCh38:
Chr12:6330624
TNFRSF1AR238Q, R85Q, R130QTNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jul 29, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr12:6443423
GRCh38:
Chr12:6334257
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Dec 12, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr12:6440009
GRCh38:
Chr12:6330843
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jun 18, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr12:6440024-6440035
GRCh38:
Chr12:6330858-6330869
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Oct 10, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr12:6439819
GRCh38:
Chr12:6330653
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Sep 27, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr12:6439241
GRCh38:
Chr12:6330075
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Aug 27, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr12:6439480
GRCh38:
Chr12:6330314
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Aug 3, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr12:6439754
GRCh38:
Chr12:6330588
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jul 21, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr12:6438503
GRCh38:
Chr12:6329337
TNFRSF1AP448R, P295R, P340RTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Jul 25, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr12:6438720
GRCh38:
Chr12:6329554
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(May 25, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr12:6438624
GRCh38:
Chr12:6329458
TNFRSF1AR300G, R408G, R255GTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(May 25, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr12:6438676
GRCh38:
Chr12:6329510
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(May 19, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr12:6443348
GRCh38:
Chr12:6334182
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(May 15, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr12:6443256
GRCh38:
Chr12:6334090
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(May 12, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr12:6439142
GRCh38:
Chr12:6329976
TNFRSF1AP179A, P287A, P134ATNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Sep 23, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr12:6442320
GRCh38:
Chr12:6333154
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Aug 16, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr12:6440030
GRCh38:
Chr12:6330864
TNFRSF1AT205N, T52N, T97NTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Jul 17, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr12:6439895
GRCh38:
Chr12:6330729
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Oct 1, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr12:6443039
GRCh38:
Chr12:6333873
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Apr 11, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr12:6439864
GRCh38:
Chr12:6330698
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Oct 21, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr12:6442592
GRCh38:
Chr12:6333426
TNFRSF1AE138G, E30GTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Jan 20, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr12:6442229
GRCh38:
Chr12:6333063
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Jul 11, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr12:6442685
GRCh38:
Chr12:6333519
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(May 29, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr12:6439103
GRCh38:
Chr12:6329937
TNFRSF1AT147A, T300A, T192ATNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Dec 18, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr12:6442619
GRCh38:
Chr12:6333453
TNFRSF1AK129R, K21RTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Mar 26, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr12:6442547
GRCh38:
Chr12:6333381
TNFRSF1AT153I, T45ITNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Mar 16, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr12:6439158
GRCh38:
Chr12:6329992
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Oct 19, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr12:6443300
GRCh38:
Chr12:6334134
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Sep 23, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr12:6439072
GRCh38:
Chr12:6329906
TNFRSF1AP202L, P157L, P310LTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr12:6450972
GRCh38:
Chr12:6341806
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(May 28, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr12:6442526
GRCh38:
Chr12:6333360
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Aug 28, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr12:6442656
GRCh38:
Chr12:6333490
TNFRSF1AC117G, C9GTNF receptor-associated periodic fever syndrome (TRAPS)Likely pathogenic
(Apr 8, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr12:6438805
GRCh38:
Chr12:6329639
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Apr 17, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr12:6439438
GRCh38:
Chr12:6330272
TNFRSF1AK102E, K255E, K147ETNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Apr 29, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr12:6438992
GRCh38:
Chr12:6329826
TNFRSF1AP184A, P229A, P337ATNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Sep 26, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr12:6438611
GRCh38:
Chr12:6329445
TNFRSF1AP259L, P304L, P412LTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Aug 13, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr12:6442982
GRCh38:
Chr12:6333816
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS), not providedLikely benign
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr12:6450950
GRCh38:
Chr12:6341784
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jun 14, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr12:6442699
GRCh38:
Chr12:6333533
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jun 5, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr12:6438996
GRCh38:
Chr12:6329830
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jul 7, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr12:6439477
GRCh38:
Chr12:6330311
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Aug 21, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr12:6442330
GRCh38:
Chr12:6333164
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Sep 27, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr12:6438763
GRCh38:
Chr12:6329597
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Dec 19, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr12:6439807
GRCh38:
Chr12:6330641
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Aug 19, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr12:6439008
GRCh38:
Chr12:6329842
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Mar 26, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr12:6443396
GRCh38:
Chr12:6334230
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Oct 4, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr12:6442237
GRCh38:
Chr12:6333071
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Sep 7, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr12:6443429
GRCh38:
Chr12:6334263
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Sep 22, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr12:6439217
GRCh38:
Chr12:6330051
TNFRSF1AT109A, T154A, T262AAutoinflammatory syndrome, TNF receptor-associated periodic fever syndrome (TRAPS)Conflicting interpretations of pathogenicity
(Jul 2, 2021)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr12:6442907
GRCh38:
Chr12:6333741
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Aug 9, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr12:6439873
GRCh38:
Chr12:6330707
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jun 8, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr12:6443399
GRCh38:
Chr12:6334233
TNFRSF1AAutoinflammatory syndrome, TNF receptor-associated periodic fever syndrome (TRAPS)Conflicting interpretations of pathogenicity
(Aug 9, 2022)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr12:6438804
GRCh38:
Chr12:6329638
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Benign
(Nov 2, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr12:6438483
GRCh38:
Chr12:6329317
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jun 5, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr12:6438966
GRCh38:
Chr12:6329800
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jul 29, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr12:6442217
GRCh38:
Chr12:6333051
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Aug 16, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr12:6440106
GRCh38:
Chr12:6330940
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(May 19, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr12:6439244
GRCh38:
Chr12:6330078
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jul 19, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr12:6438502
GRCh38:
Chr12:6329336
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(May 4, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr12:6440104
GRCh38:
Chr12:6330938
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Feb 8, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr12:6438926
GRCh38:
Chr12:6329760
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Aug 23, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr12:6450969
GRCh38:
Chr12:6341803
TNFRSF1AAutoinflammatory syndrome, TNF receptor-associated periodic fever syndrome (TRAPS)Conflicting interpretations of pathogenicity
(Aug 21, 2022)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr12:6439230
GRCh38:
Chr12:6330064
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Sep 9, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr12:6443248
GRCh38:
Chr12:6334082
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Sep 7, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr12:6438502
GRCh38:
Chr12:6329336
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(May 7, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr12:6438526
GRCh38:
Chr12:6329360
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Aug 16, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr12:6442543
GRCh38:
Chr12:6333377
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Apr 23, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr12:6439857
GRCh38:
Chr12:6330691
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Aug 11, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr12:6438793
GRCh38:
Chr12:6329627
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Jun 18, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr12:6439243
GRCh38:
Chr12:6330077
TNFRSF1ATNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(May 3, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr12:6442661
GRCh38:
Chr12:6333495
TNFRSF1AS115F, S7FTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr12:6438524
GRCh38:
Chr12:6329358
TNFRSF1AL441H, L333H, L288HTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr12:6438599
GRCh38:
Chr12:6329433
TNFRSF1AA416V, A263V, A308VTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Jan 7, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr12:6439205
GRCh38:
Chr12:6330039
TNFRSF1AP266S, P158S, P113STNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr12:6443283
GRCh38:
Chr12:6334117
TNFRSF1AS56LTNF receptor-associated periodic fever syndrome (TRAPS)Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr12:6443278
GRCh38:
Chr12:6334112
TNFRSF1AC58GTNF receptor-associated periodic fever syndrome (TRAPS)Likely pathogenic
(Oct 14, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr12:6438964
GRCh38:
Chr12:6329798
TNFRSF1AH238R, H346R, H193RTNF receptor-associated periodic fever syndrome (TRAPS)Likely benign
(Aug 16, 2022)
criteria provided, single submitter
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