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 |
affects |
association |
likely pathogenic, low penetrance |
risk factor |
not provided |
total |
3548
|
1809
|
14326
|
10408
|
1251
|
9
|
3
|
1
|
1
|
113
|
29967
|
Gene and significance breakdown #
Total genes and gene combinations: 225
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
likely pathogenic, low penetrance |
risk factor |
not provided |
total |
BRIP1
|
412
|
186
|
2288
|
1146
|
63
|
0 |
0 |
0 |
0 |
4
|
3988
|
FANCA
|
687
|
305
|
1301
|
1720
|
119
|
0 |
0 |
0 |
0 |
9
|
3761
|
FANCM
|
143
|
21
|
1236
|
567
|
46
|
0 |
0 |
1
|
0 |
0 |
2003
|
SLX4
|
96
|
29
|
1194
|
659
|
96
|
0 |
0 |
0 |
0 |
3
|
1987
|
FANCI
|
126
|
132
|
755
|
812
|
64
|
0 |
0 |
0 |
0 |
2
|
1780
|
RAD51C
|
146
|
63
|
765
|
375
|
17
|
0 |
0 |
0 |
0 |
2
|
1335
|
FANCD2, LOC107303338
|
98
|
82
|
383
|
458
|
60
|
0 |
0 |
0 |
0 |
1
|
1002
|
AOPEP, FANCC
|
88
|
86
|
408
|
363
|
29
|
0 |
0 |
0 |
0 |
3
|
900
|
CEBPA
|
32
|
15
|
570
|
259
|
13
|
0 |
0 |
0 |
0 |
11
|
889
|
FANCG
|
121
|
80
|
276
|
440
|
15
|
0 |
0 |
0 |
0 |
5
|
871
|
LPIN2
|
23
|
15
|
379
|
310
|
57
|
0 |
0 |
0 |
0 |
11
|
746
|
LOC107303340, VHL
|
110
|
36
|
395
|
169
|
10
|
0 |
0 |
0 |
0 |
2
|
706
|
FANCA, ZNF276
|
111
|
50
|
266
|
279
|
28
|
0 |
0 |
0 |
0 |
0 |
657
|
VHL
|
91
|
21
|
339
|
157
|
9
|
0 |
0 |
0 |
0 |
1
|
613
|
FANCL
|
64
|
55
|
235
|
267
|
26
|
0 |
0 |
0 |
0 |
0 |
610
|
NF1
|
99
|
68
|
352
|
83
|
1
|
0 |
0 |
0 |
0 |
0 |
602
|
FANCB
|
26
|
4
|
251
|
262
|
71
|
0 |
0 |
0 |
0 |
0 |
575
|
MPL
|
99
|
28
|
96
|
344
|
15
|
0 |
0 |
0 |
0 |
0 |
575
|
FANCE
|
33
|
33
|
241
|
252
|
24
|
0 |
0 |
0 |
0 |
0 |
546
|
ERCC4
|
28
|
4
|
293
|
189
|
27
|
0 |
0 |
0 |
0 |
1
|
526
|
FANCC
|
82
|
61
|
155
|
180
|
11
|
0 |
0 |
0 |
0 |
6
|
450
|
EGLN1
|
7
|
1
|
245
|
134
|
58
|
0 |
0 |
0 |
0 |
0 |
438
|
FANCD2, FANCD2OS
|
35
|
34
|
175
|
202
|
14
|
0 |
0 |
0 |
0 |
0 |
438
|
BRCA2
|
90
|
9
|
190
|
85
|
36
|
0 |
0 |
0 |
0 |
23
|
420
|
FANCF
|
32
|
16
|
227
|
92
|
21
|
0 |
0 |
0 |
0 |
0 |
370
|
PALB2
|
48
|
9
|
191
|
49
|
8
|
0 |
0 |
0 |
0 |
10
|
306
|
IL1RN
|
9
|
1
|
87
|
65
|
24
|
0 |
0 |
0 |
0 |
0 |
179
|
EPAS1
|
4
|
1
|
63
|
17
|
60
|
0 |
0 |
0 |
0 |
0 |
141
|
BRCA1
|
56
|
5
|
30
|
22
|
18
|
0 |
0 |
0 |
0 |
1
|
130
|
FANCA, LOC112486223
|
18
|
11
|
54
|
50
|
5
|
0 |
0 |
0 |
0 |
0 |
123
|
TP53
|
27
|
69
|
16
|
5
|
8
|
0 |
0 |
0 |
0 |
0 |
121
|
FANCE, LOC129996245
|
8
|
11
|
68
|
36
|
2
|
0 |
0 |
0 |
0 |
0 |
117
|
LOC129390903, RAD51C
|
19
|
3
|
67
|
30
|
0 |
0 |
0 |
0 |
0 |
1
|
117
|
PTPN11
|
39
|
10
|
29
|
18
|
14
|
0 |
0 |
0 |
0 |
0 |
108
|
FANCA, LOC130059837
|
18
|
13
|
43
|
31
|
1
|
0 |
0 |
0 |
0 |
0 |
90
|
RUNX1
|
7
|
12
|
55
|
6
|
10
|
0 |
0 |
0 |
0 |
0 |
87
|
FANCD2
|
20
|
7
|
28
|
25
|
3
|
0 |
0 |
0 |
0 |
0 |
80
|
SRP72
|
2
|
0 |
35
|
4
|
31
|
0 |
0 |
0 |
0 |
0 |
71
|
CBL
|
4
|
5
|
42
|
5
|
15
|
0 |
0 |
0 |
0 |
0 |
68
|
FANCI, POLG, POLGARF
|
2
|
0 |
29
|
25
|
10
|
0 |
0 |
0 |
0 |
0 |
63
|
EPOR
|
0 |
1
|
22
|
9
|
23
|
7
|
0 |
0 |
0 |
5
|
61
|
FANCA, LOC132090450
|
11
|
8
|
13
|
32
|
2
|
0 |
0 |
0 |
0 |
0 |
61
|
HBB, LOC106099062, LOC107133510
|
46
|
3
|
6
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
58
|
ERCC4, LOC130058543
|
4
|
0 |
36
|
16
|
1
|
0 |
0 |
0 |
0 |
0 |
57
|
GATA2
|
1
|
3
|
47
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
52
|
TERT
|
1
|
2
|
19
|
17
|
14
|
0 |
0 |
0 |
0 |
0 |
52
|
CEBPA, LOC130064183
|
0 |
0 |
32
|
11
|
0 |
0 |
0 |
0 |
0 |
0 |
43
|
FLT3
|
12
|
27
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
39
|
FANCF, LOC130005443
|
0 |
1
|
24
|
11
|
2
|
0 |
0 |
0 |
0 |
0 |
36
|
FANCL, VRK2
|
2
|
1
|
20
|
15
|
2
|
0 |
0 |
0 |
0 |
0 |
36
|
ABL1
|
2
|
26
|
0 |
5
|
0 |
0 |
1
|
0 |
0 |
1
|
33
|
EGLN1, LOC129932769
|
0 |
0 |
16
|
12
|
3
|
0 |
0 |
0 |
0 |
0 |
30
|
LOC130061310, RAD51C
|
2
|
2
|
9
|
18
|
0 |
0 |
0 |
0 |
0 |
0 |
29
|
NPM1
|
8
|
4
|
12
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
26
|
intergenic
|
25
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
25
|
DNAJC21
|
13
|
3
|
10
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
25
|
HBB, LOC107133510, LOC110006319
|
18
|
0 |
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
24
|
XRCC2
|
0 |
3
|
17
|
3
|
4
|
0 |
0 |
0 |
0 |
0 |
24
|
KIT
|
3
|
3
|
13
|
3
|
0 |
0 |
0 |
0 |
0 |
1
|
23
|
FANCM, LOC130055524
|
1
|
0 |
12
|
8
|
0 |
0 |
0 |
0 |
0 |
0 |
21
|
KRAS
|
8
|
6
|
4
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
21
|
MYSM1
|
8
|
2
|
1
|
0 |
10
|
0 |
0 |
0 |
0 |
0 |
21
|
BRCA1, LOC126862571
|
8
|
0 |
8
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
20
|
ERCC6L2
|
2
|
5
|
9
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
20
|
FANCA, LOC132090445, ZNF276
|
4
|
2
|
3
|
11
|
0 |
0 |
0 |
0 |
0 |
0 |
18
|
PDGFRB
|
2
|
0 |
1
|
2
|
13
|
0 |
0 |
0 |
0 |
0 |
18
|
HBA1, LOC106804613
|
15
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
17
|
DNMT3A
|
7
|
7
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
16
|
FANCF, LOC130005444
|
0 |
1
|
9
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
15
|
NRAS
|
5
|
15
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
15
|
EPAS1, LOC129933655
|
0 |
0 |
9
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
13
|
HRAS, LRRC56
|
0 |
13
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
13
|
SF3B1
|
2
|
13
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
13
|
FANCA, LOC130059837, LOC130059838
|
11
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
12
|
HBA2, LOC106804612
|
9
|
1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
12
|
FANCA, LOC112486223, LOC130059839
|
9
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
GATA1
|
11
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
INSL6, JAK2
|
2
|
4
|
3
|
1
|
1
|
1
|
0 |
0 |
0 |
2
|
11
|
RFWD3
|
2
|
0 |
3
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
9
|
SH2B3
|
3
|
0 |
4
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
9
|
ZNF469
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
9
|
BRIP1, LOC130061360
|
3
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
EPAS1, LOC126806210
|
0 |
0 |
2
|
2
|
4
|
0 |
0 |
0 |
0 |
0 |
8
|
IDH2
|
6
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
LOC129992625, SRP72
|
0 |
0 |
3
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
8
|
BCR
|
0 |
0 |
4
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
7
|
BRCA2, LOC106721785
|
0 |
1
|
3
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
7
|
FANCG, VCP
|
1
|
0 |
3
|
5
|
6
|
0 |
0 |
0 |
0 |
0 |
7
|
FANCI, POLG
|
2
|
1
|
2
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
7
|
IDH1
|
6
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
JAK3
|
0 |
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
NSD1
|
3
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
BRK1, FANCD2, FANCD2OS, VHL
|
3
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
DDX41
|
4
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
HBB, LOC106099062, LOC107133510, LOC110006319
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
LOC111811965, MIR4733HG, NF1
|
1
|
0 |
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
LOC129390903, LOC130061310, LOC130061311, RAD51C
|
3
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
RAD51
|
2
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
TCF3
|
0 |
3
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
BRIP1, LOC110120932, LOC130061360
|
1
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, LOC129936148, LOC129936149, VHL
|
3
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
CBL, LOC130006895
|
0 |
0 |
1
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
UBE2T
|
4
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
5
|
ITPKB
|
1
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
LOC129390903, LOC130061311, RAD51C
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
LOC130058347, SLX4
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
MIR181A1HG
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
PTEN
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
U2AF1
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
ADH5
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
ARHGAP26
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
ASXL1
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
LOC110806263, TERT
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
MDM4
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
PDGFRA
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
SRC
|
1
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
AOPEP, FANCC, LOC100507346, LOC105376156, LOC110121043, LOC124310595, LOC124310596, LOC124310597, LOC124310598, LOC124310599, LOC124310600, LOC130002126, LOC130002127, LOC130002128, LOC130002129, LOC130002130, LOC130002131, LOC130002132, LOC130002133, LOC132089731, LOC132089732, LOC132089733, PTCH1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
BRIP1, LOC110120932
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CBFA2T3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CBL, FRA11B, LOC130006894
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CSF3R
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CTCF
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DCLRE1B
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
EPO
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
EPOR, LOC130063571
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
ETV6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
2
|
FANCA, LOC130059837, LOC130059838, LOC132090450
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FANCA, SPIRE2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FANCC, LOC130002128
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FANCD2, VHL
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FGFR3
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
HBA1, HBA2, LOC106804612
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ITPKB, LOC129932672
|
0 |
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC129934333, TMEM127
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC130062090, LOC130062091, LOC130062092, LPIN2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LPP
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
MFSD11, SRSF2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
MLKL
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
NOTCH1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SETD2
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
TET2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
WT1
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ACE2, AP1S2, ASB11, ASB9, BMX, CA5B, CLTRN, FANCB, INE2, MOSPD2, PIGA, PIR, VEGFD, ZRSR2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ACP3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ALDH2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ANKRD11, CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, LOC126862036, LOC126862037, LOC126862038, LOC129390666, LOC130056381, LOC130056382, LOC130056383, LOC130056384, LOC130056385, LOC130056386, LOC130056387, LOC130056388, LOC130056389, LOC130056390, LOC130056391, LOC130056392, LOC130056393, LOC130056394, LOC130056395, LOC130056396, LOC130056397, LOC132090293, LOC132090294, TCL1A, TUNAR
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATM
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BCOR
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BCR, LOC107963955
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
BRAF
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
C14orf28, FANCM, FKBP3, FSCB, KLHL28, PRPF39, TOGARAM1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
C17orf47, HSF5, MTMR4, RAD51C, RNF43, SEPTIN4, TEX14
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CALR
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CBFB
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDK10, CENPBD1, CHMP1A, CPNE7, DBNDD1, DEF8, DPEP1, FANCA, GAS8, MC1R, RPL13, SPATA2L, SPATA33, SPG7, SPIRE2, TCF25, TUBB3, VPS9D1, ZNF276
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDK10, CHMP1A, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CEBPA, GPATCH1, LRP3, RHPN2, SLC7A10, WDR88
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CORO7, CORO7-PAM16
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CSF1R
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CUX1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CUX2, SH2B3
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DMD, FANCA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DNAJC21, LOC129993792
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EMILIN2, LPIN2, SMCHD1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EPAS1, LOC129933654
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EPOR, LOC130063570
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ERBB3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ERCC4, LOC130058543, LOC130058544
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ERCC4, MIR193B, MIR365A, MRTFB, PARN
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ETV6, FLT3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ETV6, LOC126861451
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EVI2A, NF1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FANCA, LOC112486223, LOC125177396, LOC126862451, LOC128772421, LOC130059837, LOC130059838, LOC130059839, LOC130059840, LOC130059841, LOC130059842, LOC130059843, LOC130059844, LOC130059845, LOC130059846, LOC132090451, LOC132090890, MC1R, SPIRE2, TCF25
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FANCA, LOC112486223, LOC129390817, LOC130059837, LOC130059838, LOC130059839, LOC132090445, LOC132090446, LOC132090447, LOC132090448, LOC132090449, LOC132090450, ZNF276
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FANCA, LOC112486223, LOC130059837, LOC130059838, LOC130059839
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FANCA, MC1R, SPIRE2, TCF25, ZNF276
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FANCC, PTCH1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FANCF, LOC130005443, LOC130005444
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FANCL, LOC129388866, LOC129933782, VRK2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FANCL, LOC129388866, VRK2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FLT3, MYO18A
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IKZF1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL18BP, NUMA1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL1F10, IL1RN, IL36RN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL1R1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
JAK1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
JAK1, LOC126805749
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KDM5A, NUP98
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KLK2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KMT2A, MLLT6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KMT2A, SEPTIN9
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LGR6, UBE2T
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC100128494, NUMA1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC100507346, PTCH1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC112486220, ZNF469
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC126805969, MIR181A1HG
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC126807054, PDGFRA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC126807619, NSD1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC129931031, SLC30A7
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC130003020, NOTCH1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC130058346, SLX4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LPIN2, MYL12A, MYL12B, MYOM1, TGIF1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MAD2L2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MDGA1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MLLT10
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MT-ND6
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NFKBIA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NUP214
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PCF11
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RAD21
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RASAL3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RTEL1, RTEL1-TNFRSF6B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SETBP1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
SF3B2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SH3GL1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SLC30A7
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SLC9A2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SOX3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SUZ12
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TEK
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TGM6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TSC1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
likely pathogenic, low penetrance |
risk factor |
not provided |
total |
Invitae
|
2289
|
639
|
11434
|
9641
|
703
|
0 |
0 |
0 |
0 |
0 |
24705
|
Fulgent Genetics, Fulgent Genetics
|
352
|
129
|
1784
|
579
|
65
|
0 |
0 |
0 |
0 |
0 |
2909
|
Illumina Laboratory Services, Illumina
|
4
|
5
|
1437
|
281
|
530
|
0 |
0 |
0 |
0 |
0 |
2251
|
Baylor Genetics
|
305
|
482
|
638
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
1427
|
Natera, Inc.
|
69
|
18
|
669
|
116
|
61
|
0 |
0 |
0 |
0 |
0 |
933
|
Leiden Open Variation Database
|
617
|
8
|
114
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
740
|
Sema4, Sema4
|
10
|
20
|
339
|
274
|
46
|
0 |
0 |
0 |
0 |
0 |
689
|
Counsyl
|
44
|
193
|
215
|
57
|
16
|
0 |
0 |
0 |
0 |
0 |
524
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
2
|
0 |
0 |
72
|
279
|
0 |
1
|
0 |
0 |
0 |
354
|
OMIM
|
264
|
0 |
1
|
0 |
0 |
9
|
0 |
0 |
1
|
0 |
274
|
Revvity Omics, Revvity
|
104
|
41
|
122
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
267
|
Database of Curated Mutations (DoCM)
|
30
|
206
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
239
|
Mendelics
|
26
|
18
|
115
|
52
|
15
|
0 |
0 |
0 |
0 |
0 |
226
|
Genome-Nilou Lab
|
0 |
2
|
18
|
10
|
100
|
0 |
0 |
0 |
0 |
0 |
130
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
7
|
5
|
101
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
114
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
49
|
62
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
111
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
21
|
4
|
62
|
6
|
2
|
0 |
0 |
0 |
0 |
0 |
95
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
1
|
23
|
39
|
20
|
0 |
0 |
0 |
0 |
0 |
83
|
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology
|
33
|
16
|
30
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
80
|
Myriad Genetics, Inc.
|
8
|
53
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
64
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
16
|
13
|
25
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
54
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
53
|
53
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
37
|
37
|
Nadeem Sheikh Lab, University of the Punjab
|
7
|
6
|
19
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
32
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
15
|
11
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
26
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
12
|
13
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
26
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
20
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
23
|
Ayesha Lab, University of the Punjab
|
0 |
6
|
11
|
0 |
6
|
0 |
0 |
0 |
0 |
0 |
23
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
8
|
3
|
8
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
21
|
Johns Hopkins Genomics, Johns Hopkins University
|
3
|
1
|
12
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
18
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
4
|
3
|
11
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
18
|
Genetic Services Laboratory, University of Chicago
|
13
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
17
|
3billion
|
10
|
5
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
17
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
3
|
0 |
12
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
16
|
Istanbul Faculty of Medicine, Istanbul University
|
7
|
4
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
16
|
Genomic Diagnostics Laboratory, National Institute of Medical Genomics
|
6
|
8
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
15
|
Genetics and Molecular Pathology, SA Pathology
|
3
|
2
|
7
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
14
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
13
|
13
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
4
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
12
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
3
|
6
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
12
|
McDonnell Genome Institute, Washington University in St. Louis
|
3
|
0 |
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Daryl Scott Lab, Baylor College of Medicine
|
7
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Institute of Human Genetics, University of Leipzig Medical Center
|
5
|
0 |
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
8
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
0 |
5
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
5
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
3
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
3
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
4
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
7
|
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Fujian Institute of Hematology, Fujian Medical University
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
3
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
6
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Molecular Diagnostics Laboratory, University of Rochester Medical Center
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Hematological Lab, University of Education
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Bone Marrow Failure laboratory, Queen Mary University London
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
2
|
1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
5
|
New York Genome Center
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Institute of Laboratory Medicine, Hospital Wels-Grieskirchen
|
4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Department of Hematology, University of Health Sciences
|
0 |
2
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Molecular Genetics and Enzymology, National Research Centre
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Molecular Genetics Lab, CHRU Brest
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
DASA
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Druker Lab, Oregon Health and Sciences University
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Cancer Genetics Lab, University of Education
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics, Cologne University
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Centogene AG - the Rare Disease Company
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Laboratory of Molecular Diagnostics and Monitoring of CML and Ph+ Leukemias, Institute of Hematology and Blood Transfusion
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
1
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Lifecell International Pvt. Ltd
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Medical Genetics Institute, Shaare Zedek Medical Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Pathway Genomics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Center for Individualized Medicine, Mayo Clinic
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
University of Washington Center for Mendelian Genomics, University of Washington
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
IntelligeneCG
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Pathology and Genetics, University of Gothenburg
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Knight Cancer Institute, Oregon Health and Science University
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Haematology Laboratory, NSW Health Pathology
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genomics Program, Stanford Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Godley laboratory, The University of Chicago
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Vinuesa Lab, Australian National University
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Pars Genome Lab
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Kids Neuroscience Centre, Sydney Children's Hospitals Network
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Hematopathology, The University of Texas M.D. Anderson Cancer Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Suma Genomics
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Center of Genomic Medicine, University of Medicine and Pharmacy Victor Babes Timisoara
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
King Laboratory, University of Washington
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, Seoul National University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
INSERM UMR 1170, INSERM
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Precision Medicine, Vanderbilt University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Functional Genomics, Research Centre for Medical Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric Leukemia/Lymphoma, Memorial Sloan Kettering Cancer Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory Oncology Unit, Dr.B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cellular and Molecular Biology Laboratory, University of Campania Luigi Vanvitelli
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics, Medical University Pleven
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
University Health Network, Princess Margaret Cancer Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomics Facility, Ludwig-Maximilians-Universität München
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Experimental and Health Sciences Department, Universitat Pompeu Fabra
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Malcovati Lab, University of Pavia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
International Fanconi Anemia Registry, The Rockefeller University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Medicine, NSW Health Pathology North, Newcastle
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Zoology, Division of Science and Technology, University of Education
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cytogenetique et Genetique Moleculaire, CHU Besancon
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dr. Afia Zoology Lab, University of Education
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
King Fahd Medical Research Center, King Abdulaziz University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Shandong Key Laboratory of Immunohematology, Qilu Hospital, Shandong University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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