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 |
established risk allele |
risk factor |
not provided |
total |
14946
|
4098
|
77481
|
56253
|
3178
|
4
|
1
|
1
|
145725
|
Gene and significance breakdown #
Total genes and gene combinations: 210
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
established risk allele |
risk factor |
not provided |
total |
BRCA2
|
2180
|
242
|
5331
|
7216
|
306
|
0 |
0 |
0 |
11949
|
APC
|
749
|
100
|
4575
|
2337
|
143
|
1
|
1
|
0 |
7488
|
MSH6
|
1059
|
156
|
3473
|
1568
|
71
|
0 |
0 |
0 |
6091
|
BRCA1
|
1226
|
220
|
2299
|
3405
|
184
|
0 |
0 |
0 |
5913
|
ATM
|
759
|
241
|
3264
|
1865
|
84
|
0 |
0 |
0 |
5894
|
MSH2
|
1082
|
222
|
1956
|
1779
|
107
|
0 |
0 |
0 |
4622
|
TSC2
|
105
|
31
|
2203
|
1791
|
184
|
0 |
0 |
0 |
4129
|
RAD50
|
352
|
83
|
2066
|
1157
|
50
|
0 |
0 |
0 |
3639
|
POLE
|
2
|
0 |
2002
|
1518
|
86
|
0 |
0 |
0 |
3526
|
PALB2
|
571
|
121
|
1914
|
1080
|
43
|
0 |
0 |
1
|
3524
|
ATM, C11orf65
|
480
|
204
|
1985
|
971
|
33
|
0 |
0 |
0 |
3520
|
MLH1
|
817
|
283
|
1574
|
858
|
64
|
0 |
0 |
0 |
3442
|
PMS2
|
449
|
113
|
1957
|
983
|
56
|
0 |
0 |
0 |
3372
|
BRIP1
|
276
|
135
|
1923
|
1064
|
31
|
0 |
0 |
0 |
3288
|
DICER1
|
192
|
25
|
1894
|
1115
|
32
|
0 |
0 |
0 |
3205
|
SMARCA4
|
55
|
19
|
1342
|
1401
|
108
|
0 |
0 |
0 |
2812
|
CDH1
|
185
|
55
|
1419
|
989
|
68
|
0 |
0 |
0 |
2517
|
BARD1
|
196
|
81
|
1435
|
875
|
32
|
0 |
0 |
0 |
2485
|
ALK
|
1
|
0 |
1196
|
969
|
69
|
0 |
0 |
0 |
2198
|
BLM
|
124
|
38
|
1319
|
721
|
15
|
0 |
0 |
0 |
2185
|
CHEK2
|
268
|
133
|
1294
|
541
|
11
|
3
|
0 |
0 |
2159
|
POLD1
|
2
|
0 |
1059
|
924
|
73
|
0 |
0 |
0 |
1992
|
MET
|
4
|
2
|
1172
|
804
|
41
|
0 |
0 |
0 |
1990
|
PTCH1
|
74
|
22
|
1038
|
835
|
50
|
0 |
0 |
0 |
1979
|
AXIN2
|
46
|
8
|
1187
|
704
|
58
|
0 |
0 |
0 |
1942
|
MSH3
|
145
|
35
|
1259
|
500
|
5
|
0 |
0 |
0 |
1918
|
RET
|
54
|
12
|
969
|
813
|
55
|
0 |
0 |
0 |
1862
|
TP53
|
426
|
208
|
627
|
762
|
48
|
0 |
0 |
0 |
1803
|
NBN
|
147
|
67
|
1056
|
527
|
23
|
0 |
0 |
0 |
1763
|
TSC1
|
50
|
15
|
967
|
701
|
80
|
0 |
0 |
0 |
1733
|
BAP1
|
96
|
35
|
879
|
771
|
38
|
0 |
0 |
0 |
1732
|
MUTYH
|
130
|
95
|
935
|
602
|
21
|
0 |
0 |
0 |
1684
|
MRE11
|
69
|
42
|
924
|
417
|
12
|
0 |
0 |
0 |
1447
|
SDHA
|
90
|
51
|
773
|
482
|
41
|
0 |
0 |
0 |
1413
|
RB1
|
173
|
30
|
704
|
455
|
44
|
0 |
0 |
0 |
1384
|
STK11
|
103
|
33
|
641
|
602
|
53
|
0 |
0 |
0 |
1322
|
CTNNA1
|
0 |
1
|
693
|
598
|
27
|
0 |
0 |
0 |
1319
|
PTEN
|
333
|
127
|
473
|
377
|
27
|
0 |
0 |
0 |
1307
|
PDGFRA
|
0 |
0 |
679
|
538
|
22
|
0 |
0 |
0 |
1227
|
BMPR1A
|
95
|
30
|
705
|
415
|
60
|
0 |
0 |
0 |
1214
|
NF1
|
117
|
31
|
598
|
447
|
61
|
0 |
0 |
0 |
1194
|
FLCN
|
132
|
23
|
540
|
450
|
43
|
0 |
0 |
0 |
1165
|
MEN1
|
175
|
62
|
528
|
397
|
24
|
0 |
0 |
0 |
1165
|
RAD51C
|
87
|
53
|
616
|
368
|
10
|
0 |
0 |
0 |
1076
|
BRCA1, LOC126862571
|
205
|
4
|
434
|
797
|
24
|
0 |
0 |
0 |
1057
|
RAD51D, RAD51L3-RFFL
|
74
|
59
|
587
|
390
|
13
|
0 |
0 |
0 |
1055
|
POT1
|
40
|
31
|
582
|
346
|
7
|
0 |
0 |
0 |
998
|
FH
|
142
|
85
|
439
|
331
|
13
|
0 |
0 |
0 |
990
|
KIT
|
3
|
1
|
517
|
452
|
17
|
0 |
0 |
0 |
984
|
NTHL1
|
37
|
20
|
536
|
265
|
0 |
0 |
0 |
0 |
834
|
NF2
|
29
|
10
|
455
|
312
|
35
|
0 |
0 |
0 |
827
|
CDKN2A
|
63
|
52
|
478
|
224
|
13
|
0 |
0 |
0 |
781
|
AOPEP, FANCC
|
34
|
10
|
420
|
237
|
7
|
0 |
0 |
0 |
708
|
SUFU
|
13
|
4
|
327
|
290
|
20
|
0 |
0 |
0 |
645
|
HOXB13
|
0 |
2
|
416
|
181
|
3
|
0 |
0 |
0 |
601
|
CDC73
|
22
|
4
|
296
|
269
|
12
|
0 |
0 |
0 |
599
|
SDHB
|
84
|
54
|
291
|
154
|
13
|
0 |
0 |
0 |
590
|
PHOX2B
|
23
|
6
|
282
|
237
|
10
|
0 |
0 |
0 |
555
|
CDKN1B
|
28
|
2
|
287
|
190
|
31
|
0 |
0 |
0 |
521
|
XRCC2
|
4
|
23
|
327
|
150
|
2
|
0 |
0 |
0 |
496
|
AIP
|
12
|
3
|
264
|
194
|
13
|
0 |
0 |
0 |
479
|
EPCAM
|
1
|
0 |
286
|
184
|
9
|
0 |
0 |
0 |
476
|
RAD50, TH2-LCR, TH2LCRR
|
26
|
22
|
271
|
167
|
4
|
0 |
0 |
0 |
475
|
SMAD4
|
11
|
3
|
201
|
255
|
11
|
0 |
0 |
0 |
464
|
LOC100507346, PTCH1
|
18
|
3
|
231
|
169
|
10
|
0 |
0 |
0 |
423
|
SMARCE1
|
11
|
3
|
160
|
244
|
0 |
0 |
0 |
0 |
418
|
PRKAR1A
|
5
|
6
|
195
|
198
|
13
|
0 |
0 |
0 |
411
|
VHL
|
41
|
31
|
187
|
140
|
9
|
0 |
0 |
0 |
397
|
TMEM127
|
22
|
13
|
229
|
124
|
5
|
0 |
0 |
0 |
384
|
SMARCB1
|
6
|
6
|
157
|
198
|
12
|
0 |
0 |
0 |
368
|
SDHC
|
26
|
20
|
180
|
94
|
6
|
0 |
0 |
0 |
323
|
DHFR, MSH3
|
11
|
9
|
185
|
104
|
14
|
0 |
0 |
0 |
318
|
FANCC
|
32
|
5
|
174
|
82
|
2
|
0 |
0 |
0 |
295
|
SDHAF2
|
16
|
9
|
182
|
89
|
4
|
0 |
0 |
0 |
294
|
SDHD
|
48
|
21
|
137
|
76
|
4
|
0 |
0 |
0 |
283
|
CDK4
|
2
|
0 |
177
|
101
|
5
|
0 |
0 |
0 |
281
|
LOC107303340, VHL
|
65
|
26
|
102
|
74
|
6
|
0 |
0 |
0 |
266
|
GREM1
|
0 |
0 |
120
|
103
|
1
|
0 |
0 |
0 |
224
|
LOC130002133, PTCH1
|
0 |
1
|
108
|
77
|
11
|
0 |
0 |
0 |
194
|
CDK4, TSPAN31
|
0 |
0 |
119
|
66
|
2
|
0 |
0 |
0 |
184
|
RECQL4
|
3
|
5
|
88
|
73
|
12
|
0 |
0 |
0 |
181
|
RAD50, TH2LCRR
|
5
|
7
|
130
|
43
|
4
|
0 |
0 |
0 |
180
|
MAX
|
13
|
4
|
91
|
55
|
1
|
0 |
0 |
0 |
163
|
LOC130062899, STK11
|
3
|
0 |
81
|
60
|
6
|
0 |
0 |
0 |
134
|
EGFR
|
0 |
1
|
46
|
54
|
7
|
0 |
0 |
0 |
108
|
AIP, LOC130006206
|
2
|
0 |
58
|
39
|
4
|
0 |
0 |
0 |
102
|
LOC130004614, SUFU
|
2
|
1
|
48
|
45
|
3
|
0 |
0 |
0 |
97
|
FANCM
|
2
|
2
|
60
|
28
|
3
|
0 |
0 |
0 |
94
|
LOC129934333, TMEM127
|
7
|
1
|
56
|
30
|
0 |
0 |
0 |
0 |
93
|
LOC110011216, PHOX2B
|
15
|
1
|
23
|
44
|
7
|
0 |
0 |
0 |
85
|
KLLN, LOC130004273, PTEN
|
0 |
0 |
73
|
6
|
4
|
0 |
0 |
0 |
82
|
LOC129390903, RAD51C
|
8
|
1
|
57
|
18
|
0 |
0 |
0 |
0 |
78
|
KLLN, PTEN
|
0 |
0 |
68
|
4
|
0 |
0 |
0 |
0 |
69
|
LOC126807437, MSH3
|
2
|
1
|
46
|
21
|
0 |
0 |
0 |
0 |
69
|
MUTYH, TOE1
|
1
|
3
|
43
|
21
|
1
|
0 |
0 |
0 |
68
|
BIVM-ERCC5, ERCC5
|
0 |
0 |
31
|
32
|
1
|
0 |
0 |
0 |
64
|
LOC126860438, NBN
|
10
|
1
|
39
|
14
|
2
|
0 |
0 |
0 |
64
|
LOC130009266, POLE
|
0 |
0 |
36
|
24
|
3
|
0 |
0 |
0 |
60
|
LOC129933707, MSH6
|
2
|
4
|
21
|
30
|
1
|
0 |
0 |
0 |
55
|
LOC130004273, PTEN
|
0 |
0 |
48
|
5
|
0 |
0 |
0 |
0 |
53
|
CDK4, LOC130008148
|
0 |
0 |
27
|
21
|
0 |
0 |
0 |
0 |
48
|
RECQL
|
2
|
9
|
25
|
8
|
3
|
0 |
0 |
0 |
47
|
LOC126861339, SDHD
|
8
|
0 |
22
|
13
|
1
|
0 |
0 |
0 |
44
|
RUNX1
|
0 |
1
|
19
|
16
|
8
|
0 |
0 |
0 |
44
|
CDKN2A, LOC130001603
|
1
|
1
|
28
|
9
|
3
|
0 |
0 |
0 |
38
|
ABRAXAS1
|
1
|
0 |
25
|
11
|
0 |
0 |
0 |
0 |
37
|
GATA2
|
0 |
0 |
18
|
17
|
2
|
0 |
0 |
0 |
37
|
CEBPA
|
0 |
3
|
23
|
7
|
3
|
0 |
0 |
0 |
36
|
LOC106736614, RET
|
0 |
0 |
19
|
15
|
1
|
0 |
0 |
0 |
34
|
LOC100506321, MAX
|
4
|
1
|
12
|
14
|
0 |
0 |
0 |
0 |
31
|
ATR
|
0 |
0 |
4
|
25
|
1
|
0 |
0 |
0 |
30
|
LOC129933695, MSH2
|
0 |
1
|
25
|
1
|
0 |
0 |
0 |
0 |
27
|
LOC107982234, WT1
|
0 |
0 |
14
|
9
|
3
|
0 |
0 |
0 |
26
|
MITF
|
1
|
1
|
17
|
6
|
2
|
0 |
0 |
0 |
26
|
LOC129929542, SDHB
|
4
|
2
|
15
|
5
|
0 |
0 |
0 |
0 |
25
|
GALNT12
|
0 |
0 |
22
|
2
|
0 |
0 |
0 |
0 |
24
|
GPC3
|
0 |
0 |
3
|
12
|
7
|
0 |
0 |
0 |
22
|
MLH3
|
0 |
0 |
21
|
0 |
0 |
0 |
0 |
0 |
21
|
PALLD
|
0 |
0 |
21
|
0 |
0 |
0 |
0 |
0 |
21
|
PIK3CA
|
0 |
0 |
8
|
13
|
0 |
0 |
0 |
0 |
21
|
KIF1B
|
0 |
0 |
19
|
0 |
1
|
0 |
0 |
0 |
20
|
WT1
|
0 |
1
|
6
|
10
|
3
|
0 |
0 |
0 |
20
|
LOC130055850, MAX
|
2
|
0 |
12
|
5
|
0 |
0 |
0 |
0 |
19
|
HRAS, LRRC56
|
0 |
0 |
10
|
6
|
2
|
0 |
0 |
0 |
18
|
RAD51B
|
0 |
1
|
9
|
8
|
0 |
0 |
0 |
0 |
18
|
GEN1
|
0 |
0 |
2
|
15
|
0 |
0 |
0 |
0 |
17
|
RINT1
|
0 |
0 |
16
|
0 |
0 |
0 |
0 |
0 |
16
|
PYROXD1, RECQL
|
0 |
0 |
15
|
0 |
0 |
0 |
0 |
0 |
15
|
CASR
|
0 |
0 |
3
|
9
|
2
|
0 |
0 |
0 |
14
|
LOC130061310, RAD51C
|
0 |
1
|
7
|
6
|
0 |
0 |
0 |
0 |
14
|
PPM1D
|
0 |
0 |
0 |
14
|
0 |
0 |
0 |
0 |
14
|
CBR4, PALLD
|
0 |
0 |
12
|
0 |
1
|
0 |
0 |
0 |
13
|
BRCA2, LOC106721785
|
0 |
2
|
4
|
4
|
1
|
0 |
0 |
0 |
11
|
BRCA1, LOC111589215
|
0 |
0 |
5
|
4
|
1
|
0 |
0 |
0 |
10
|
LOC111811965, MIR4733HG, NF1
|
2
|
1
|
2
|
5
|
0 |
0 |
0 |
0 |
10
|
APC, LOC129994371
|
2
|
4
|
2
|
1
|
0 |
0 |
0 |
0 |
9
|
KCNK12, MSH2
|
0 |
0 |
1
|
2
|
6
|
0 |
0 |
0 |
9
|
BIVM-ERCC5, ERCC5, LOC126861834
|
0 |
0 |
6
|
2
|
0 |
0 |
0 |
0 |
8
|
BRCA1, LOC110485084, LOC111589216
|
0 |
0 |
2
|
4
|
2
|
0 |
0 |
0 |
8
|
BRCC3
|
0 |
0 |
0 |
8
|
0 |
0 |
0 |
0 |
8
|
CDH1, LOC130059290
|
0 |
0 |
6
|
1
|
1
|
0 |
0 |
0 |
8
|
LOC130058209, NTHL1
|
0 |
0 |
7
|
1
|
0 |
0 |
0 |
0 |
8
|
CHEK1
|
0 |
0 |
2
|
4
|
0 |
0 |
0 |
0 |
6
|
EGFR, LOC126860048
|
0 |
0 |
4
|
1
|
1
|
0 |
0 |
0 |
6
|
EFCAB10, RINT1
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
0 |
5
|
BRIP1, LOC110120932
|
0 |
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
EGLN1
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
4
|
FAM20A, PRKAR1A
|
0 |
0 |
0 |
2
|
2
|
0 |
0 |
0 |
4
|
LOC130001411, RECQL4
|
0 |
0 |
2
|
1
|
1
|
0 |
0 |
0 |
4
|
ABRAXAS1, LOC129992784
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
CDK4, MIR6759, TSPAN31
|
0 |
0 |
2
|
1
|
0 |
0 |
0 |
0 |
3
|
LOC126862483, TP53, WRAP53
|
0 |
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
LOC130003710, RET
|
0 |
0 |
2
|
1
|
0 |
0 |
0 |
0 |
3
|
NOP10
|
0 |
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
WRAP53
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
3
|
BRCA1, LOC110485084
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
CEBPA, LOC130064183
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
CTNNA1, LRRTM2
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
EPCAM, MSH2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
GALNT12, LOC130002222
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
LOC130002132, PTCH1
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
LOC130004274, PTEN
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
LOC130058210, TSC2
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
0 |
2
|
MPZ, SDHC
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
NTHL1, TSC2
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
SLX4
|
0 |
0 |
1
|
1
|
0 |
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, CDKN2AIPNL, 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, YIPF5, YTHDC2, ZCCHC10, ZMAT2, ZNF300, ZNF474, ZNF608
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AIP, MIR6752
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ARMC5
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ATM, LOC128772356
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CHEK2, LOC130067165
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CHURC1-FNTB, FNTB, LOC126861966, MAX
|
0 |
0 |
0 |
1
|
0 |
0 |
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 |
0 |
0 |
1
|
CTNNA1, LOC129994750
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DDX41
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
EPM2AIP1, MLH1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ERCC4
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ERCC6L2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EXT2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FANCA, LOC130059837
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FANCI
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FANCM, LOC130055524
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FBXO11, MSH6
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GFI1B, MIR548AW, TSC1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HFE
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KIF1B, LOC126805614
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KLLN, LOC130004273, LOC130004274, PTEN
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC106113036, NF1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, STK11
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC113687193, POT1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC125371447, STK11
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC129933706, MSH6
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC129997916, PMS2
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC130007530, RECQL
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC130064985, POLD1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC130064986, POLD1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MAP3K1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MAP4K2, MEN1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MBD4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MECOM
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MSR1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NF1, OMG
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PRSS1, TRB
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PTPN11
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RAD21
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RASA2
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
RNF43
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SH2B3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TERT
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
TP53, WRAP53
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
established risk allele |
risk factor |
not provided |
total |
Ambry Genetics
|
13824
|
3269
|
66840
|
42361
|
1781
|
4
|
0 |
0 |
128079
|
Color Diagnostics, LLC DBA Color Health
|
3078
|
723
|
17228
|
11412
|
830
|
1
|
0 |
0 |
33270
|
Sema4, Sema4
|
340
|
257
|
4571
|
3706
|
1381
|
0 |
0 |
0 |
10255
|
University of Washington Department of Laboratory Medicine, University of Washington
|
39
|
15
|
34
|
7305
|
0 |
0 |
0 |
0 |
7393
|
Invitae
|
328
|
84
|
2035
|
1166
|
55
|
0 |
0 |
0 |
3668
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
|
28
|
22
|
239
|
253
|
149
|
0 |
0 |
0 |
691
|
Genome-Nilou Lab
|
86
|
78
|
241
|
210
|
17
|
0 |
0 |
0 |
632
|
True Health Diagnostics
|
23
|
5
|
142
|
373
|
45
|
0 |
1
|
0 |
589
|
GeneKor MSA
|
63
|
25
|
407
|
17
|
0 |
0 |
1
|
0 |
513
|
Vantari Genetics
|
7
|
0 |
17
|
34
|
58
|
0 |
0 |
0 |
116
|
Mendelics
|
8
|
11
|
57
|
34
|
4
|
0 |
0 |
0 |
114
|
GeneDx
|
41
|
0 |
9
|
2
|
45
|
0 |
0 |
0 |
97
|
Spanish ATM Cancer Susceptibility Variant Interpretation Working Group
|
13
|
6
|
21
|
6
|
4
|
0 |
0 |
0 |
50
|
Academic Department of Medical Genetics, University of Cambridge
|
21
|
23
|
2
|
0 |
0 |
0 |
0 |
0 |
46
|
Illumina Laboratory Services, Illumina
|
1
|
2
|
9
|
23
|
3
|
0 |
0 |
0 |
38
|
Genomic Center, National Cancer Institute
|
18
|
8
|
1
|
0 |
0 |
0 |
0 |
0 |
27
|
BRCAlab, Lund University
|
17
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
26
|
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf
|
6
|
4
|
10
|
0 |
0 |
0 |
0 |
0 |
20
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
13
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
19
|
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich
|
15
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
17
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
1
|
11
|
0 |
1
|
0 |
0 |
0 |
0 |
13
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Center of Medical Genetics and Primary Health Care
|
1
|
0 |
6
|
0 |
0 |
0 |
0 |
0 |
7
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
3
|
4
|
0 |
0 |
0 |
0 |
0 |
7
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
1
|
2
|
0 |
0 |
0 |
5
|
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London
|
3
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
Breast Care Center, Daerim St. Mary`s Hospital
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
1
|
1
|
0 |
0 |
0 |
3
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Cancer Genomics Lab, PINUM Cancer Hospital
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Yale Center for Mendelian Genomics, Yale University
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
0 |
2
|
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 |
2
|
Clinical Molecular Diagnostic Laboratory, City of Hope National Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Cancer Genetics and Family Consultants, Athens Medical Center
|
0 |
0 |
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 |
0 |
0 |
1
|
NxGen MDx
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GoPath Diagnostics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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Molecular Genetics, Royal Melbourne Hospital
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