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Links from MedGen

Items: 1 to 100 of 2002

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:224472
GRCh38:
Chr5:224357
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Apr 27, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr5:228394
GRCh38:
Chr5:228279
SDHAI191R, I239RParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Sep 30, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr5:226174
GRCh38:
Chr5:226059
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(Sep 6, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr5:225997
GRCh38:
Chr5:225882
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Pathogenic
(Oct 12, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr5:224596
GRCh38:
Chr5:224481
SDHAT91IParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Mar 10, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr5:226086
GRCh38:
Chr5:225971
SDHAK182R, K134RParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Jun 2, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr5:228435
GRCh38:
Chr5:228320
SDHAV205L, V253LParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Aug 4, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr5:240501
GRCh38:
Chr5:240386
SDHAN487K, N439KMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Sep 2, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr5:225983
GRCh38:
Chr5:225868
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(May 15, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr5:235246-235247
GRCh38:
Chr5:235131-235132
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Jan 17, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr5:240493
GRCh38:
Chr5:240378
SDHAK485Q, K437QMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Sep 6, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr5:256436-256438
GRCh38:
Chr5:256321-256323
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(Sep 19, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr5:223595
GRCh38:
Chr5:223480
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely pathogenic
(Sep 13, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr5:251198
GRCh38:
Chr5:251083
SDHAH548R, H500RParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Oct 7, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr5:225689
GRCh38:
Chr5:225574
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Oct 7, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr5:233705
GRCh38:
Chr5:233590
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(May 6, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr5:226033
GRCh38:
Chr5:225918
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(Jul 14, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr5:235251
GRCh38:
Chr5:235136
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Oct 26, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr5:226072
GRCh38:
Chr5:225957
SDHAS177R, S129RParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Dec 29, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr5:218523
GRCh38:
Chr5:218408
SDHAL18QParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr5:226007
GRCh38:
Chr5:225892
SDHAY156H, Y108HParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Apr 25, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr5:224652
GRCh38:
Chr5:224537
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Aug 16, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr5:223697
GRCh38:
Chr5:223582
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Jul 10, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr5:235400
GRCh38:
Chr5:235285
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(Jun 12, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr5:236578
GRCh38:
Chr5:236463
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(Sep 26, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr5:228395
GRCh38:
Chr5:228280
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Jul 23, 2019)
criteria provided, single submitter
27.
GRCh37:
Chr5:228371
GRCh38:
Chr5:228256
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Sep 7, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr5:224473
GRCh38:
Chr5:224358
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely pathogenic
(Aug 9, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr5:218524
GRCh38:
Chr5:218409
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Jul 14, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr5:240466
GRCh38:
Chr5:240351
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Sep 10, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr5:231062
GRCh38:
Chr5:230947
SDHAT281S, T233SMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Nov 1, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr5:240458
GRCh38:
Chr5:240343
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Benign
(May 29, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr5:256462
GRCh38:
Chr5:256347
SDHAY593C, Y560C, Y641CMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Jun 21, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr5:251598
GRCh38:
Chr5:251483
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Apr 8, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr5:218546
GRCh38:
Chr5:218431
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Sep 19, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr5:256434
GRCh38:
Chr5:256319
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Sep 22, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr5:224654
GRCh38:
Chr5:224539
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Oct 18, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr5:235355
GRCh38:
Chr5:235240
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(Apr 9, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr5:251508
GRCh38:
Chr5:251393
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(Oct 8, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr5:233619
GRCh38:
Chr5:233504
SDHAT308K, T260KMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Sep 13, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr5:251194
GRCh38:
Chr5:251079
SDHAK499Q, K547QMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Mar 28, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr5:233759
GRCh38:
Chr5:233644
SDHAR355*, R307*Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Pathogenic
(Feb 22, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr5:224459
GRCh38:
Chr5:224344
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Jun 3, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr5:228300
GRCh38:
Chr5:228185
SDHAS160P, S208PMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Apr 28, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr5:225622
GRCh38:
Chr5:225507
SDHAG134VParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(May 30, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr5:224483
GRCh38:
Chr5:224368
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Jun 23, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr5:224460
GRCh38:
Chr5:224345
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Oct 17, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr5:235472
GRCh38:
Chr5:235357
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Oct 11, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr5:224457
GRCh38:
Chr5:224342
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Apr 4, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr5:240603
GRCh38:
Chr5:240488
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Sep 22, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr5:231081
GRCh38:
Chr5:230966
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(May 12, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr5:225620
GRCh38:
Chr5:225505
SDHAD135fsParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Pathogenic
(May 26, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr5:224607
GRCh38:
Chr5:224492
SDHAP95AParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Jul 8, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr5:233758
GRCh38:
Chr5:233643
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(May 9, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr5:240602
GRCh38:
Chr5:240487
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(May 8, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr5:228387
GRCh38:
Chr5:228272
SDHAL189V, L237VParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Jun 30, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr5:251170
GRCh38:
Chr5:251055
SDHAI539V, I491VParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(May 3, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr5:218471-218472
GRCh38:
Chr5:218356-218357
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(May 3, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr5:251181
GRCh38:
Chr5:251066
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(May 4, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr5:223580
GRCh38:
Chr5:223465
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(Apr 28, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr5:225668
GRCh38:
Chr5:225553
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(Apr 26, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr5:235277
GRCh38:
Chr5:235162
SDHAK361N, K313NParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Apr 24, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr5:240533
GRCh38:
Chr5:240418
SDHAK498T, K450TMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Apr 15, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr5:236602
GRCh38:
Chr5:236487
SDHAE392D, E440DMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Apr 15, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr5:223604
GRCh38:
Chr5:223489
SDHAT24RMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Jul 7, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr5:228429
GRCh38:
Chr5:228314
SDHAN251D, N203DMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Apr 30, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr5:235326-235327
GRCh38:
Chr5:235211-235212
SDHAR331fs, R379fsMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Pathogenic
(Jun 14, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr5:240505-240507
GRCh38:
Chr5:240390-240392
SDHAG441del, G489delMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Aug 11, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr5:224585
GRCh38:
Chr5:224470
SDHAHereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5
Likely benign
(Feb 20, 2023)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr5:240458
GRCh38:
Chr5:240343
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Apr 1, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr5:251228
GRCh38:
Chr5:251113
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Sep 3, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr5:223671
GRCh38:
Chr5:223556
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(Mar 25, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr5:240476-240477
GRCh38:
Chr5:240361-240362
SDHAK432fs, K480fsMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Pathogenic
(Mar 29, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr5:251119
GRCh38:
Chr5:251004
SDHAH522Y, H474YMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Apr 11, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr5:236662
GRCh38:
Chr5:236547
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(Mar 23, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr5:251601
GRCh38:
Chr5:251486
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(Mar 21, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr5:223675
GRCh38:
Chr5:223560
SDHAS48TParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Mar 20, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr5:233590
GRCh38:
Chr5:233475
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely pathogenic
(Mar 20, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr5:225550
GRCh38:
Chr5:225435
SDHAA110VParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Mar 25, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr5:235333
GRCh38:
Chr5:235218
SDHAL332R, L380RParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Mar 19, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr5:235376
GRCh38:
Chr5:235261
SDHAD346E, D394EParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr5:236524
GRCh38:
Chr5:236409
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Sep 13, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr5:225562
GRCh38:
Chr5:225447
SDHAM114KParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Mar 5, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr5:226015
GRCh38:
Chr5:225900
SDHAM158I, M110IMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Apr 17, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr5:240524
GRCh38:
Chr5:240409
SDHAN447I, N495IMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Feb 19, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr5:235472-235473
GRCh38:
Chr5:235357-235358
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Benign
(Apr 29, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr5:231100
GRCh38:
Chr5:230985
SDHAQ294K, Q246KParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Feb 11, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr5:224627
GRCh38:
Chr5:224512
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Feb 8, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr5:223664
GRCh38:
Chr5:223549
SDHAS44CMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Feb 7, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr5:228343
GRCh38:
Chr5:228228
SDHAL174S, L222SMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr5:224529
GRCh38:
Chr5:224414
SDHAA69SMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Uncertain significance
(Feb 6, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr5:223677
GRCh38:
Chr5:223562
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Aug 13, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr5:251155
GRCh38:
Chr5:251040
SDHAE486K, E534KParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr5:224544
GRCh38:
Chr5:224429
SDHAMitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5Likely benign
(Feb 23, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr5:233718
GRCh38:
Chr5:233603
SDHAD341G, D293GParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Jan 26, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr5:224526
GRCh38:
Chr5:224411
SDHAG68SParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Jan 18, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr5:251163
GRCh38:
Chr5:251048
SDHAC536*, C488*Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Pathogenic
(Apr 3, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr5:240609
GRCh38:
Chr5:240494
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(Jan 17, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr5:225585
GRCh38:
Chr5:225470
SDHAH122NParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Jan 16, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr5:225691
GRCh38:
Chr5:225576
SDHAParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Likely benign
(Jan 15, 2022)
criteria provided, single submitter
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