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.
Gene and significance breakdown #
Total genes and gene combinations: 242
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
BRCA2
|
2626
|
300
|
5895
|
8955
|
468
|
0 |
14475
|
|
APC
|
898
|
210
|
6024
|
2879
|
170
|
0 |
9665
|
|
MSH6
|
1223
|
231
|
4107
|
1871
|
85
|
0 |
7191
|
|
ATM
|
993
|
317
|
3795
|
2492
|
111
|
0 |
7181
|
|
BRCA1
|
1426
|
266
|
2739
|
3719
|
211
|
0 |
6802
|
|
POLE
|
4
|
1
|
3543
|
2275
|
100
|
0 |
5819
|
|
TSC2
|
140
|
54
|
3205
|
2305
|
186
|
0 |
5700
|
|
MSH2
|
1181
|
244
|
2215
|
2206
|
148
|
0 |
5324
|
|
DICER1
|
256
|
43
|
2567
|
1516
|
34
|
0 |
4345
|
|
ATM, C11orf65
|
612
|
269
|
2388
|
1234
|
39
|
0 |
4320
|
|
PALB2
|
697
|
151
|
2189
|
1562
|
47
|
1
|
4250
|
|
PMS2
|
518
|
145
|
2351
|
1278
|
71
|
0 |
4075
|
|
RAD50
|
363
|
86
|
2326
|
1283
|
54
|
0 |
4009
|
|
ALK
|
1
|
0 |
2351
|
1589
|
127
|
0 |
4004
|
|
MLH1
|
903
|
320
|
1853
|
1002
|
68
|
0 |
3966
|
|
BRIP1
|
332
|
162
|
2341
|
1319
|
37
|
0 |
3965
|
|
SMARCA4
|
81
|
29
|
1784
|
1758
|
115
|
0 |
3650
|
|
MUTYH
|
166
|
201
|
1887
|
920
|
304
|
0 |
3145
|
|
POLD1
|
3
|
2
|
1700
|
1380
|
90
|
0 |
3092
|
|
CDH1
|
231
|
62
|
1653
|
1293
|
82
|
0 |
3042
|
|
BARD1
|
251
|
112
|
1717
|
1082
|
35
|
0 |
3001
|
|
MET
|
4
|
4
|
1735
|
1224
|
62
|
0 |
2993
|
|
BLM
|
137
|
40
|
1868
|
949
|
18
|
0 |
2977
|
|
PTCH1
|
104
|
34
|
1583
|
1096
|
57
|
0 |
2830
|
|
MSH3
|
224
|
55
|
1750
|
706
|
11
|
0 |
2710
|
|
CHEK2
|
372
|
189
|
1547
|
671
|
12
|
0 |
2652
|
|
AXIN2
|
80
|
11
|
1562
|
975
|
86
|
0 |
2638
|
|
RET
|
60
|
15
|
1394
|
1091
|
70
|
0 |
2582
|
|
TSC1
|
84
|
24
|
1472
|
982
|
90
|
0 |
2568
|
|
BAP1
|
163
|
73
|
1073
|
1022
|
153
|
0 |
2298
|
|
TP53
|
549
|
266
|
717
|
950
|
61
|
0 |
2167
|
|
RB1
|
219
|
49
|
1107
|
668
|
55
|
0 |
2074
|
|
NBN
|
150
|
69
|
1243
|
638
|
30
|
0 |
2070
|
|
PDGFRA
|
0 |
1
|
1126
|
835
|
89
|
0 |
2031
|
|
SDHA
|
136
|
81
|
1067
|
672
|
43
|
0 |
1974
|
|
CTNNA1
|
82
|
11
|
1014
|
803
|
30
|
0 |
1937
|
|
MRE11
|
71
|
43
|
1167
|
498
|
15
|
0 |
1775
|
|
EGFR
|
0 |
2
|
993
|
726
|
33
|
0 |
1729
|
|
KIT
|
5
|
4
|
916
|
741
|
39
|
0 |
1693
|
|
MEN1
|
241
|
78
|
779
|
545
|
30
|
0 |
1651
|
|
FLCN
|
179
|
33
|
806
|
582
|
58
|
0 |
1631
|
|
PTEN
|
405
|
190
|
585
|
510
|
29
|
0 |
1625
|
|
STK11
|
132
|
50
|
774
|
729
|
65
|
0 |
1622
|
|
BMPR1A
|
115
|
43
|
912
|
532
|
72
|
0 |
1566
|
|
POT1
|
73
|
40
|
875
|
509
|
7
|
0 |
1492
|
|
FH
|
201
|
128
|
679
|
426
|
17
|
0 |
1429
|
|
RAD51C
|
101
|
102
|
578
|
510
|
202
|
0 |
1301
|
|
NF2
|
44
|
20
|
770
|
431
|
38
|
0 |
1288
|
|
RAD51D, RAD51L3-RFFL
|
84
|
75
|
710
|
460
|
13
|
0 |
1253
|
|
NF1
|
119
|
35
|
598
|
450
|
69
|
0 |
1206
|
|
BRCA1, LOC126862571
|
243
|
3
|
538
|
828
|
24
|
0 |
1185
|
|
NTHL1
|
56
|
24
|
695
|
365
|
1
|
0 |
1105
|
|
CDKN2A
|
75
|
59
|
602
|
290
|
13
|
0 |
965
|
|
SUFU
|
23
|
7
|
531
|
381
|
26
|
0 |
958
|
|
AOPEP, FANCC
|
39
|
12
|
561
|
330
|
8
|
0 |
949
|
|
CDC73
|
31
|
9
|
522
|
378
|
13
|
0 |
948
|
|
HOXB13
|
0 |
2
|
603
|
277
|
4
|
0 |
885
|
|
PHOX2B
|
23
|
6
|
464
|
306
|
11
|
0 |
807
|
|
SDHB
|
110
|
73
|
406
|
197
|
13
|
0 |
794
|
|
CDKN1B
|
52
|
9
|
428
|
259
|
39
|
0 |
768
|
|
EPCAM
|
1
|
0 |
476
|
250
|
10
|
0 |
732
|
|
AIP
|
20
|
9
|
391
|
257
|
15
|
0 |
685
|
|
XRCC2
|
6
|
23
|
450
|
206
|
2
|
0 |
676
|
|
SMARCE1
|
22
|
5
|
300
|
348
|
0 |
0 |
675
|
|
SMARCB1
|
18
|
12
|
331
|
294
|
14
|
0 |
658
|
|
LOC100507346, PTCH1
|
23
|
7
|
360
|
222
|
14
|
0 |
617
|
|
PRKAR1A
|
9
|
11
|
318
|
262
|
16
|
0 |
610
|
|
TMEM127
|
37
|
17
|
353
|
166
|
5
|
0 |
569
|
|
SMAD4
|
13
|
4
|
240
|
294
|
13
|
0 |
544
|
|
VHL
|
55
|
35
|
227
|
200
|
30
|
0 |
535
|
|
RAD50, TH2-LCR, TH2LCRR
|
26
|
24
|
293
|
175
|
4
|
0 |
505
|
|
MITF
|
2
|
1
|
312
|
177
|
3
|
0 |
493
|
|
SDHAF2
|
21
|
20
|
278
|
125
|
5
|
0 |
442
|
|
SDHC
|
38
|
21
|
247
|
128
|
10
|
0 |
441
|
|
DHFR, MSH3
|
13
|
10
|
240
|
139
|
18
|
0 |
413
|
|
FANCC
|
34
|
8
|
239
|
116
|
2
|
0 |
399
|
|
SDHD
|
61
|
18
|
213
|
103
|
6
|
0 |
398
|
|
CDK4
|
2
|
0 |
226
|
145
|
7
|
0 |
375
|
|
GREM1
|
0 |
0 |
208
|
156
|
3
|
0 |
365
|
|
LOC107303340, VHL
|
81
|
38
|
111
|
124
|
10
|
0 |
355
|
|
MAX
|
20
|
9
|
145
|
106
|
1
|
0 |
279
|
|
LOC130002133, PTCH1
|
0 |
1
|
145
|
106
|
13
|
0 |
261
|
|
CDK4, TSPAN31
|
0 |
0 |
141
|
92
|
2
|
0 |
232
|
|
RAD50, TH2LCRR
|
5
|
7
|
135
|
45
|
4
|
0 |
187
|
|
RECQL4
|
3
|
5
|
88
|
73
|
12
|
0 |
181
|
|
LOC130062899, STK11
|
5
|
2
|
95
|
68
|
8
|
0 |
161
|
|
LOC129934333, TMEM127
|
18
|
3
|
86
|
42
|
1
|
0 |
148
|
|
AIP, LOC130006206
|
5
|
0 |
78
|
51
|
4
|
0 |
137
|
|
LOC130004614, SUFU
|
6
|
2
|
70
|
57
|
3
|
0 |
135
|
|
LOC110011216, PHOX2B
|
16
|
1
|
36
|
52
|
7
|
0 |
106
|
|
LOC126807437, MSH3
|
5
|
2
|
70
|
26
|
0 |
0 |
101
|
|
LOC130009266, POLE
|
0 |
0 |
56
|
45
|
3
|
0 |
101
|
|
LOC129390903, RAD51C
|
11
|
4
|
48
|
45
|
17
|
0 |
99
|
|
FANCM
|
2
|
2
|
62
|
29
|
4
|
0 |
97
|
|
MUTYH, TOE1
|
1
|
3
|
57
|
26
|
1
|
0 |
85
|
|
KLLN, LOC130004273, PTEN
|
0 |
0 |
70
|
6
|
4
|
0 |
79
|
|
LOC126860438, NBN
|
10
|
1
|
45
|
20
|
2
|
0 |
75
|
|
LOC126861339, SDHD
|
10
|
1
|
41
|
19
|
1
|
0 |
72
|
|
CDK4, LOC130008148
|
0 |
0 |
39
|
31
|
0 |
0 |
70
|
|
KLLN, PTEN
|
0 |
0 |
68
|
4
|
0 |
0 |
69
|
|
EGFR, LOC126860048
|
0 |
0 |
32
|
34
|
1
|
0 |
66
|
|
BIVM-ERCC5, ERCC5
|
0 |
0 |
31
|
32
|
1
|
0 |
64
|
|
LOC129933707, MSH6
|
3
|
4
|
23
|
32
|
1
|
0 |
60
|
|
LOC106736614, RET
|
0 |
0 |
33
|
18
|
1
|
0 |
51
|
|
ATR
|
0 |
0 |
4
|
25
|
17
|
0 |
46
|
|
CDKN2A, LOC130001603
|
1
|
1
|
30
|
16
|
3
|
0 |
44
|
|
RUNX1
|
0 |
1
|
19
|
16
|
8
|
0 |
44
|
|
GATA2
|
0 |
0 |
18
|
17
|
2
|
0 |
37
|
|
CEBPA
|
0 |
3
|
23
|
7
|
3
|
0 |
36
|
|
RECQL
|
2
|
9
|
13
|
8
|
3
|
0 |
35
|
|
LOC129929542, SDHB
|
4
|
2
|
21
|
8
|
0 |
0 |
34
|
|
LOC130004273, MLDHR, PTEN
|
0 |
0 |
31
|
1
|
0 |
0 |
32
|
|
GEN1
|
0 |
0 |
2
|
15
|
13
|
0 |
30
|
|
LOC130055850, MAX
|
5
|
0 |
17
|
7
|
0 |
0 |
29
|
|
LOC107982234, WT1
|
0 |
0 |
14
|
10
|
3
|
0 |
27
|
|
LOC129933695, MSH2
|
0 |
1
|
25
|
1
|
0 |
0 |
27
|
|
RAD51B
|
0 |
1
|
9
|
8
|
6
|
0 |
24
|
|
LOC130004273, PTEN
|
0 |
0 |
18
|
5
|
0 |
0 |
23
|
|
GPC3
|
0 |
0 |
3
|
12
|
7
|
0 |
22
|
|
PIK3CA
|
0 |
0 |
8
|
13
|
0 |
0 |
21
|
|
WT1
|
0 |
1
|
6
|
10
|
3
|
0 |
20
|
|
ABRAXAS1
|
1
|
0 |
4
|
11
|
3
|
0 |
19
|
|
HRAS, LRRC56
|
0 |
0 |
10
|
6
|
2
|
0 |
18
|
|
PALLD
|
0 |
0 |
17
|
0 |
0 |
0 |
17
|
|
RNF43
|
0 |
0 |
3
|
2
|
12
|
0 |
17
|
|
PPM1D
|
0 |
0 |
0 |
14
|
2
|
0 |
16
|
|
LOC130061310, RAD51C
|
0 |
1
|
8
|
6
|
0 |
0 |
15
|
|
CASR
|
0 |
0 |
3
|
9
|
2
|
0 |
14
|
|
GALNT12
|
0 |
0 |
5
|
4
|
5
|
0 |
14
|
|
PKD1, TSC2
|
1
|
0 |
1
|
8
|
7
|
0 |
13
|
|
APC, LOC129994371
|
3
|
3
|
5
|
1
|
0 |
0 |
12
|
|
BRCA2, LOC106721785
|
0 |
2
|
3
|
5
|
1
|
0 |
11
|
|
LOC130058209, NTHL1
|
0 |
0 |
8
|
3
|
0 |
0 |
11
|
|
BRCA1, LOC111589215
|
0 |
0 |
5
|
4
|
1
|
0 |
10
|
|
LOC111811965, MIR4733HG, NF1
|
2
|
1
|
2
|
5
|
0 |
0 |
10
|
|
PYROXD1, RECQL
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
|
SLX4
|
0 |
0 |
3
|
2
|
5
|
0 |
10
|
|
CBR4, PALLD
|
0 |
0 |
8
|
0 |
1
|
0 |
9
|
|
KCNK12, MSH2
|
0 |
0 |
1
|
2
|
6
|
0 |
9
|
|
BIVM-ERCC5, ERCC5, LOC126861834
|
0 |
0 |
6
|
2
|
0 |
0 |
8
|
|
BRCA1, LOC110485084, LOC111589216
|
0 |
0 |
2
|
4
|
2
|
0 |
8
|
|
BRCC3
|
0 |
0 |
0 |
8
|
0 |
0 |
8
|
|
CDH1, LOC130059290
|
0 |
0 |
6
|
1
|
1
|
0 |
8
|
|
ERCC4
|
0 |
0 |
1
|
1
|
6
|
0 |
8
|
|
KIF1B
|
0 |
0 |
2
|
1
|
5
|
0 |
8
|
|
CHEK1
|
0 |
0 |
2
|
4
|
0 |
0 |
6
|
|
FANCD2, LOC107303338
|
0 |
0 |
1
|
1
|
4
|
0 |
6
|
|
RPS20
|
0 |
1
|
0 |
0 |
4
|
0 |
5
|
|
BRIP1, LOC110120932
|
0 |
0 |
0 |
4
|
0 |
0 |
4
|
|
FAM20A, PRKAR1A
|
0 |
0 |
0 |
2
|
2
|
0 |
4
|
|
FANCA
|
1
|
0 |
0 |
2
|
1
|
0 |
4
|
|
FBXO11, MSH6
|
0 |
0 |
0 |
2
|
3
|
0 |
4
|
|
LOC130001411, RECQL4
|
0 |
0 |
2
|
1
|
1
|
0 |
4
|
|
LOC130003710, RET
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
|
LZTR1
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
|
PPP2R2A
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
|
PTPN11
|
2
|
0 |
1
|
0 |
1
|
0 |
4
|
|
BARD1, LOC129935544
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
|
CDK4, MIR6759, TSPAN31
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
|
CTNNA1, LRRTM2
|
1
|
0 |
0 |
2
|
0 |
0 |
3
|
|
FANCD2
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
|
FANCF
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
|
KLLN, LOC130004273, MLDHR, PTEN
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
LOC126862483, TP53, WRAP53
|
0 |
1
|
1
|
1
|
0 |
0 |
3
|
|
LOC130002132, PTCH1
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
|
NOP10
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
|
NTHL1, TSC2
|
1
|
0 |
1
|
1
|
0 |
0 |
3
|
|
SAMD9
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
WRAP53
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
AIP, MIR6752
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
ANKRD26
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
BRCA1, LOC110485084
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
CBL
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
|
CEBPA, LOC130064183
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
EPCAM, MSH2
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
ERCC2
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
FANCI
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
LOC130004274, PTEN
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
|
LOC130058210, TSC2
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
|
MC1R
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
MLH3
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
|
NF1, OMG
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
|
SBDS
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
|
TERT
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
ABLIM3, ACSL6, ADAMTS19, ADGRV1, ADRB2, AFAP1L1, AFF4, ALDH7A1, ANKHD1, ANKHD1-EIF4EBP3, ANXA6, AP3S1, APBB3, APC, ARAP3, ARB2A, ARHGAP26, ARHGEF37, ARL14EPL, ARRDC3, ARSI, ARSK, ATG12, ATOX1, BRD8, C5orf15, C5orf24, C5orf46, C5orf63, CAMK2A, CAMK4, CAMLG, CAST, CATSPER3, CCDC112, CCDC69, CCNH, CCNI2, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDKL3, CDO1, CDX1, CEP120, CETN3, CHD1, CHSY3, COMMD10, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTXN3, CXCL14, CXXC5, CYSTM1, DCANP1, DCP2, DCTN4, DDX46, DELE1, DIAPH1, DMXL1, DNAJC18, DND1, DPYSL3, DTWD2, ECSCR, EFNA5, EGR1, EIF4EBP3, ELL2, EPB41L4A, ERAP1, ERAP2, ETF1, FAM114A2, FAM13B, FAM170A, FAM174A, FAM53C, FAM81B, FAT2, FBN2, FBXL17, FBXO38, FCHSD1, FEM1C, FER, FGF1, FNIP1, FSTL4, FTMT, G3BP1, GALNT10, GDF9, GFRA3, GIN1, GLRA1, GLRX, GM2A, GNPDA1, GPR150, GPR151, GPX3, GRAMD2B, GRIA1, GRPEL2, GRXCR2, HAND1, HARS1, HARS2, HBEGF, HDAC3, HINT1, HMGXB3, HMHB1, HNRNPA0, HSD17B4, HSPA4, HSPA9, HTR4, IGIP, IK, IL13, IL17B, IL3, IL4, IL5, IL9, IRF1, IRGM, ISOC1, JADE2, JAKMIP2, KCNN2, KCTD16, KDM3B, KIAA0825, KIF20A, KIF3A, KLHL3, LARS1, LEAP2, LECT2, LIX1, LMNB1, LNPEP, LOX, LRRTM2, LUCAT1, LVRN, LYRM7, LYSMD3, MACIR, MACROH2A1, MAN2A1, MARCHF3, MATR3, MBLAC2, MCC, MCTP1, MEF2C, MEGF10, MFAP3, MINAR2, MIR143, MIR145, MIR378A, MIR9-2, MYOT, MYOZ3, MZB1, NDFIP1, NDST1, NDUFA2, NEUROG1, NME5, NMUR2, NR2F1, NR3C1, NREP, NRG2, NUDT12, P4HA2, PAIP2, PAM, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCSK1, PCYOX1L, PDE6A, PDGFRB, PDLIM4, PFDN1, PGGT1B, PHAX, PITX1, PJA2, PKD2L2, PLAC8L1, POLR3G, POU4F3, POU5F2, PPARGC1B, PPIC, PPIP5K2, PPP2CA, PPP2R2B, PRDM6, PRELID2, PROB1, PRR16, PRRC1, PSD2, PURA, RAD50, RAPGEF6, RASA1, RBM22, RBM27, REEP2, REEP5, RELL2, RFESD, RGMB, RHOBTB3, RIOK2, RNF14, RPS14, SAP30L, SAR1B, SCGB3A2, SEC24A, SEMA6A, SEPTIN8, SH3RF2, SH3TC2, SHROOM1, SIL1, SKIC3, SKP1, SLC12A2, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SLCO4C1, SLCO6A1, SLF1, SMAD5, SMIM3, SNCAIP, SNHG4, SNX2, SNX24, SOWAHA, SPARC, SPATA24, SPATA9, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPMIP10, SPOCK1, SPRY4, SRA1, SRFBP1, SRP19, ST8SIA4, STARD4, STING1, STK32A, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TGFBI, TICAM2, TIFAB, TIGD6, TMCO6, TMED7, TMED7-TICAM2, TMEM161B, TMEM232, TNFAIP8, TNIP1, TRIM36, TRPC7, TSLP, TSSK1B, TXNDC15, UBE2B, UBE2D2, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR55, WNT8A, XTBD1, YIPF5, YTHDC2, ZCCHC10, ZMAT2, ZNF300, ZNF474, ZNF608
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
ACD
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
ARMC5
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
ATM, LOC128772356
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
ATM, LOC130006700
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
BAP1, DNAH1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
BAP1, PHF7
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
BMPR1A, LOC130004245
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
BRCA1, LOC111589215, NBR2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
CBL, LOC130006895
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
CDKN1B, LOC130007457
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
CHEK2, LOC130067165
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
CHURC1-FNTB, FNTB, LOC126861966, MAX
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
CIAO1, LOC129934333, TMEM127
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
CRAMP1, EME2, FAHD1, GFER, HAGH, HS3ST6, IFT140, IGFALS, JPT2, MAPK8IP3, MEIOB, MRPS34, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NUBP2, RNF151, RPL3L, RPS2, SNHG9, SPSB3, SYNGR3, TBL3, TMEM204, TSC2, ZNF598
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
CTNNA1, LOC129994750
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
CYLD
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
DCTN5, PALB2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
DDX41
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
ERCC3
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
ERCC6L2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
ETV6
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
EXT2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
FANCA, LOC130059837
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
FANCB
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
FANCD2, FANCD2OS
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
FANCE
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
FANCM, LOC130055524
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
GFI1B, MIR548AW, TSC1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
HFE
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
KLLN, LOC130004273, LOC130004274, MLDHR, PTEN
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
LOC106113036, NF1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, STK11
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
LOC112543439, LOC130062894, LOC130062895, STK11
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
LOC113687193, POT1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
LOC125371447, STK11
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
LOC129933706, MSH6
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
LOC129997916, PMS2
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
LOC130007530, RECQL
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
LOC130064985, POLD1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
LOC130064986, POLD1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
LRRFIP2, MLH1
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
MAP3K1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
MAP4K2, MEN1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
MBD4
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
MECOM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
MSR1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
PRSS1, TRB
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
PTCH2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
RAD21
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
RAD51
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
RASA2
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
RB1, RB1-DT
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
RINT1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
SAMD9L
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
SH2B3
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
TP53, WRAP53
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
XPC
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Ambry Genetics
|
17131
|
4507
|
91058
|
59998
|
3035
|
0 |
175729
|
|
Color Diagnostics, LLC DBA Color Health
|
3465
|
832
|
19352
|
13155
|
882
|
0 |
37684
|
|
Sema4, Sema4
|
340
|
257
|
4571
|
3706
|
1381
|
0 |
10255
|
|
University of Washington Department of Laboratory Medicine, University of Washington
|
39
|
15
|
34
|
7305
|
0 |
0 |
7393
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
336
|
85
|
2061
|
1197
|
56
|
0 |
3735
|
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
|
40
|
32
|
395
|
372
|
256
|
0 |
1095
|
|
Molecular Diagnostics Laboratory, Catalan Institute of Oncology
|
243
|
114
|
321
|
234
|
113
|
0 |
1025
|
|
GeneKor MSA
|
97
|
43
|
407
|
17
|
247
|
0 |
811
|
|
Genome-Nilou Lab
|
86
|
78
|
241
|
210
|
17
|
0 |
632
|
|
True Health Diagnostics
|
24
|
5
|
142
|
373
|
45
|
0 |
589
|
|
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre
|
32
|
13
|
80
|
51
|
50
|
0 |
226
|
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
6
|
0 |
134
|
1
|
0 |
141
|
|
Vantari Genetics
|
7
|
0 |
17
|
34
|
58
|
0 |
116
|
|
Mendelics
|
8
|
11
|
56
|
35
|
4
|
0 |
114
|
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
59
|
32
|
15
|
0 |
0 |
0 |
106
|
|
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge
|
1
|
1
|
63
|
39
|
1
|
0 |
105
|
|
GeneDx
|
41
|
0 |
9
|
2
|
45
|
0 |
97
|
|
Laboratorio de I+D, Fundación Centro Médico de Asturias
|
3
|
0 |
12
|
30
|
48
|
0 |
93
|
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
15
|
29
|
8
|
1
|
1
|
0 |
54
|
|
Spanish ATM Cancer Susceptibility Variant Interpretation Working Group
|
13
|
6
|
21
|
6
|
4
|
0 |
50
|
|
Academic Department of Medical Genetics, University of Cambridge
|
21
|
23
|
2
|
0 |
0 |
0 |
46
|
|
Catlab - Consorci Sanitari de Terrassa
|
8
|
0 |
30
|
7
|
0 |
0 |
45
|
|
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar
|
13
|
2
|
21
|
7
|
1
|
0 |
44
|
|
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche
|
12
|
11
|
16
|
1
|
0 |
0 |
40
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
6
|
3
|
17
|
10
|
2
|
0 |
38
|
|
Genomic Center, National Cancer Institute
|
18
|
8
|
1
|
0 |
0 |
0 |
27
|
|
Spanish MMR Variant Interpretation Working Group
|
3
|
2
|
11
|
5
|
6
|
0 |
27
|
|
BRCAlab, Lund University
|
17
|
9
|
0 |
0 |
0 |
0 |
26
|
|
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf
|
6
|
4
|
10
|
0 |
0 |
0 |
20
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
13
|
6
|
0 |
0 |
0 |
0 |
19
|
|
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich
|
15
|
2
|
0 |
0 |
0 |
0 |
17
|
|
Molecular Pathology, Peter Maccallum Cancer Centre
|
4
|
4
|
8
|
0 |
0 |
0 |
16
|
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
1
|
11
|
0 |
1
|
0 |
0 |
13
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
6
|
0 |
0 |
0 |
0 |
10
|
|
Breast Care Center, Daerim St. Mary`s Hospital
|
5
|
2
|
0 |
0 |
0 |
0 |
7
|
|
Center of Medical Genetics and Primary Health Care
|
1
|
0 |
6
|
0 |
0 |
0 |
7
|
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
3
|
4
|
0 |
0 |
0 |
7
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
2
|
1
|
3
|
0 |
0 |
0 |
6
|
|
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
1
|
2
|
0 |
5
|
|
Illumina Laboratory Services, Illumina
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
|
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli
|
0 |
0 |
0 |
2
|
2
|
0 |
4
|
|
Cancer Genomics Lab, PINUM Cancer Hospital
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Yale Center for Mendelian Genomics, Yale University
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Clinical Cancer Genetics and Family Consultants, Athens Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Molecular Genomics & Cytogenomics Laboratory, City of Hope National Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Cure Brain Cancer Foundation Neuro-Oncology Group, Adult Cancer Program, University of New South Wales
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
GoPath Diagnostics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
NxGen MDx
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. The submitted information has not been verified.
If you have questions about the information contained on this
website, please see a health care professional.