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 |
association |
risk factor |
not provided |
total |
880
|
1097
|
3794
|
3390
|
1068
|
1
|
1
|
26
|
9770
|
Gene and significance breakdown #
Total genes and gene combinations: 148
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
risk factor |
not provided |
total |
FBN2
|
42
|
59
|
914
|
1035
|
306
|
0 |
0 |
6
|
2244
|
DOK7
|
71
|
62
|
293
|
465
|
42
|
0 |
0 |
2
|
910
|
MUSK
|
45
|
28
|
233
|
331
|
42
|
0 |
0 |
3
|
670
|
RAPSN
|
78
|
54
|
186
|
331
|
18
|
0 |
0 |
1
|
627
|
NEB
|
67
|
340
|
55
|
17
|
47
|
0 |
0 |
0 |
514
|
CHRND
|
20
|
11
|
255
|
161
|
25
|
0 |
0 |
0 |
447
|
UBA1
|
3
|
0 |
184
|
172
|
88
|
0 |
0 |
3
|
438
|
CHRNA1
|
20
|
7
|
211
|
146
|
20
|
0 |
0 |
0 |
384
|
SLC35A3
|
39
|
13
|
50
|
163
|
7
|
0 |
0 |
0 |
258
|
MYH3
|
28
|
19
|
131
|
55
|
111
|
0 |
0 |
0 |
246
|
DSE
|
2
|
1
|
120
|
101
|
14
|
0 |
0 |
0 |
237
|
NEB, RIF1
|
39
|
157
|
17
|
1
|
13
|
0 |
0 |
0 |
224
|
TPM2
|
15
|
11
|
74
|
102
|
21
|
0 |
0 |
0 |
214
|
VPS33B
|
21
|
20
|
115
|
8
|
14
|
1
|
0 |
0 |
177
|
PIEZO2
|
42
|
34
|
51
|
6
|
25
|
0 |
0 |
0 |
153
|
IRF6
|
52
|
19
|
52
|
16
|
12
|
0 |
0 |
3
|
151
|
CHST14
|
20
|
2
|
66
|
52
|
5
|
0 |
0 |
3
|
142
|
RIPK4
|
5
|
1
|
79
|
17
|
31
|
0 |
0 |
0 |
132
|
SYNE1
|
8
|
6
|
36
|
21
|
32
|
0 |
0 |
2
|
105
|
MYH8, MYHAS
|
1
|
0 |
78
|
15
|
8
|
0 |
0 |
0 |
102
|
CHRNG
|
22
|
28
|
40
|
3
|
5
|
0 |
0 |
0 |
88
|
VIPAS39
|
12
|
8
|
62
|
5
|
0 |
0 |
0 |
0 |
87
|
MYBPC1
|
3
|
2
|
28
|
8
|
45
|
0 |
0 |
0 |
83
|
ECEL1
|
35
|
23
|
22
|
1
|
4
|
0 |
0 |
0 |
79
|
FBN2, LOC126807501
|
0 |
0 |
28
|
39
|
10
|
0 |
0 |
0 |
72
|
DOK7, LOC129992118
|
3
|
3
|
24
|
25
|
3
|
0 |
0 |
0 |
57
|
LOC126863253, UBA1
|
1
|
0 |
24
|
20
|
13
|
0 |
0 |
0 |
56
|
ZC4H2
|
26
|
11
|
15
|
0 |
1
|
0 |
0 |
1
|
52
|
CHRNG, TIGD1
|
3
|
6
|
37
|
3
|
6
|
0 |
0 |
1
|
51
|
GLE1, LOC101929270
|
6
|
10
|
30
|
3
|
6
|
0 |
0 |
0 |
51
|
TNNT3
|
3
|
3
|
32
|
5
|
12
|
0 |
0 |
0 |
49
|
GLE1
|
2
|
10
|
27
|
4
|
5
|
0 |
0 |
0 |
45
|
CHST14, LOC130056851
|
4
|
0 |
20
|
13
|
0 |
0 |
0 |
0 |
36
|
MET
|
1
|
0 |
35
|
0 |
0 |
0 |
1
|
0 |
36
|
TNNI2
|
6
|
7
|
18
|
2
|
7
|
0 |
0 |
0 |
36
|
DOK7, LOC126806951
|
1
|
3
|
11
|
18
|
2
|
0 |
0 |
0 |
35
|
LGI4
|
8
|
10
|
8
|
0 |
8
|
0 |
0 |
0 |
34
|
FKBP10
|
11
|
12
|
6
|
1
|
2
|
0 |
0 |
0 |
30
|
GLDN
|
10
|
17
|
6
|
1
|
1
|
0 |
0 |
0 |
30
|
SCARF2
|
10
|
3
|
4
|
1
|
9
|
0 |
0 |
0 |
26
|
CNTNAP1
|
10
|
6
|
3
|
4
|
2
|
0 |
0 |
0 |
24
|
KIF14
|
2
|
11
|
6
|
2
|
3
|
0 |
0 |
0 |
24
|
ASCC1
|
15
|
6
|
4
|
0 |
1
|
0 |
0 |
0 |
23
|
LOC126862494, MYH8, MYHAS
|
0 |
0 |
14
|
0 |
2
|
0 |
0 |
0 |
16
|
ERBB3
|
1
|
6
|
4
|
0 |
4
|
0 |
0 |
0 |
15
|
RYR1
|
5
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
15
|
TOR1A
|
4
|
5
|
3
|
1
|
1
|
0 |
0 |
0 |
13
|
TRIP4
|
6
|
5
|
1
|
1
|
1
|
0 |
0 |
0 |
13
|
NUP88
|
3
|
0 |
3
|
0 |
6
|
0 |
0 |
0 |
12
|
ADGRG6
|
4
|
3
|
3
|
1
|
2
|
0 |
0 |
0 |
11
|
DNM2
|
2
|
0 |
4
|
1
|
2
|
0 |
0 |
1
|
10
|
PIP5K1C
|
1
|
1
|
3
|
1
|
4
|
0 |
0 |
0 |
10
|
NEK9
|
1
|
2
|
2
|
1
|
3
|
0 |
0 |
0 |
9
|
SCYL2
|
3
|
3
|
0 |
0 |
3
|
0 |
0 |
0 |
9
|
ADCY6
|
3
|
1
|
5
|
0 |
0 |
0 |
0 |
0 |
7
|
LOC126862493, MYH8, MYHAS
|
0 |
0 |
3
|
4
|
0 |
0 |
0 |
0 |
7
|
CHRND, CHRNG
|
0 |
0 |
1
|
4
|
4
|
0 |
0 |
0 |
5
|
LOC105369937, MYBPC1
|
0 |
0 |
3
|
0 |
2
|
0 |
0 |
0 |
5
|
LOC126859837, SYNE1
|
0 |
0 |
3
|
1
|
1
|
0 |
0 |
0 |
5
|
ADAMTS15
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
AGL, SLC35A3
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
4
|
BLTP1
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
ZBTB42
|
1
|
0 |
2
|
0 |
2
|
0 |
0 |
0 |
4
|
DOK7, LOC126806951, LOC129992118
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
ERGIC1
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
3
|
FBN1
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
GLE1, LOC130002710
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
LOC112441444, MYL11
|
3
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
MYL11
|
1
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
NALCN
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
ACTA1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ASAH1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ASPM
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CNTNAP1, LOC125177481
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
2
|
DYNC1H1
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
EARS2
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FBN2, LOC126807502
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
INE1, UBA1
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
LOC126862474, NUP88
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
0 |
2
|
LOC130068372, LOC130068373, LOC130068374, ZC3H12B, ZC4H2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ROR2
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SPAG16
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
USH2A
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
VPS13D
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
ACP2, ARFGAP2, CSTPP1, DDB2, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ADCY6, TEX49
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ADD1, DOK7, GRK4, HGFAC, HTT, MFSD10, MSANTD1, NOP14, RGS12, SH3BP2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ADSS1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ALDH5A1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ALPG, ALPI, ALPP, CHRND, DIS3L2, ECEL1, PRSS56
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ALPI, CHRND, CHRNG, ECEL1, PRSS56
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ANKRD18B, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IL11RA, KIF24, MELK, MSMP, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ATP2B3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AVEN, RYR3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AVEN, RYR3, RYR3-DT
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BICD2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CCIN, CLTA, CREB3, FAM221B, GBA2, GLIPR2, GNE, HINT2, HRCT1, MSMP, NPR2, OR13J1, OR2S2, RECK, RGP1, SPAG8, TLN1, TMEM8B, TPM2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CHRNA1, LOC122861243, LOC129935149, LOC129935150
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CHRNA1, LOC129935149, LOC129935150
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CHRND, CHRNG, LOC129935864, TIGD1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CHRNG, LOC129935864
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CHUK
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CNTNAP1, LOC128669077
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
COL1A2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DOCK7
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DQX1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DSE, LOC129997034, TSPYL1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ESR1, SYNE1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EXOSC3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FBLN1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FZD3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GBE1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GCN1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GFRA4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
IQSEC3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
IQSEC3, LOC574538
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KIF1B
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KLHL7
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC124310625, LOC126860730, MUSK
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC124310625, MUSK
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC126806373, NEB
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC126862156, TRIP4
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126862696, PIEZO2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC129997480, SYNE1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC130002772, TOR1A
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC130060295, MYH3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC130068210, UBA1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MAGI3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MIR6788, PIEZO2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MUSK, SVEP1, TXN, TXNDC8
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MYOD1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NAGA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NUP88, RABEP1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PRG4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PRICKLE1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PSMC3, RAPSN, SLC39A13
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SCN4A
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SCN5A
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SCN8A
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SENP7
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SEPSECS
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SETBP1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SH3TC2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
STK11
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
TMPO
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UNC50
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ZEB2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ZNF875
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
risk factor |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
362
|
121
|
2372
|
3120
|
571
|
0 |
0 |
0 |
6546
|
Illumina Laboratory Services, Illumina
|
8
|
1
|
758
|
188
|
379
|
0 |
0 |
0 |
1233
|
Fulgent Genetics, Fulgent Genetics
|
79
|
279
|
332
|
81
|
15
|
0 |
0 |
0 |
786
|
Baylor Genetics
|
139
|
451
|
87
|
0 |
0 |
0 |
0 |
0 |
673
|
Genome-Nilou Lab
|
0 |
0 |
4
|
2
|
257
|
0 |
0 |
0 |
263
|
OMIM
|
251
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
251
|
Cirak Lab, University Hospital Cologne
|
13
|
33
|
22
|
0 |
0 |
0 |
0 |
0 |
68
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
12
|
13
|
33
|
4
|
0 |
0 |
0 |
0 |
62
|
Neuberg Centre For Genomic Medicine, NCGM
|
3
|
16
|
34
|
0 |
0 |
0 |
0 |
0 |
53
|
3billion
|
17
|
6
|
15
|
14
|
0 |
0 |
0 |
0 |
52
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
15
|
14
|
18
|
1
|
0 |
0 |
0 |
0 |
48
|
Natera, Inc.
|
1
|
0 |
36
|
7
|
2
|
0 |
0 |
0 |
46
|
Mendelics
|
14
|
5
|
0 |
4
|
17
|
0 |
0 |
0 |
40
|
Revvity Omics, Revvity
|
1
|
5
|
31
|
1
|
0 |
0 |
0 |
0 |
38
|
University of Washington Center for Mendelian Genomics, University of Washington
|
26
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
33
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
7
|
7
|
18
|
0 |
1
|
0 |
0 |
0 |
33
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
5
|
22
|
0 |
0 |
0 |
27
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
12
|
14
|
0 |
0 |
0 |
0 |
0 |
0 |
26
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
10
|
7
|
8
|
0 |
0 |
0 |
0 |
0 |
25
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
7
|
8
|
7
|
0 |
0 |
0 |
0 |
0 |
22
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
6
|
13
|
2
|
0 |
0 |
0 |
0 |
22
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
4
|
7
|
9
|
0 |
0 |
0 |
0 |
0 |
20
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
2
|
15
|
0 |
0 |
0 |
0 |
0 |
19
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
5
|
13
|
0 |
0 |
0 |
18
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
2
|
15
|
1
|
0 |
0 |
0 |
0 |
18
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
5
|
4
|
9
|
0 |
0 |
0 |
0 |
0 |
18
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
12
|
5
|
0 |
0 |
0 |
17
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
8
|
7
|
2
|
0 |
0 |
0 |
0 |
0 |
16
|
Centogene AG - the Rare Disease Company
|
2
|
8
|
5
|
0 |
0 |
0 |
0 |
0 |
15
|
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences
|
7
|
6
|
2
|
0 |
0 |
0 |
0 |
0 |
15
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
2
|
8
|
3
|
0 |
0 |
0 |
0 |
0 |
13
|
Genetic Services Laboratory, University of Chicago
|
7
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
New York Genome Center
|
2
|
2
|
8
|
0 |
0 |
0 |
0 |
0 |
12
|
SIB Swiss Institute of Bioinformatics
|
3
|
4
|
4
|
0 |
0 |
0 |
0 |
0 |
11
|
Suma Genomics
|
3
|
3
|
4
|
1
|
0 |
0 |
0 |
0 |
11
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
2
|
6
|
0 |
0 |
0 |
0 |
0 |
10
|
Institute of Human Genetics, Cologne University
|
3
|
4
|
2
|
0 |
0 |
0 |
0 |
0 |
9
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
8
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
9
|
9
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
9
|
0 |
0 |
0 |
9
|
MVZ Medizinische Genetik Mainz
|
0 |
5
|
4
|
0 |
0 |
0 |
0 |
0 |
9
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
3
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
8
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
3
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
8
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
2
|
4
|
0 |
0 |
0 |
0 |
0 |
8
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
7
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
2
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
7
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
1
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
7
|
MGZ Medical Genetics Center
|
2
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
7
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Mayo Clinic Laboratories, Mayo Clinic
|
2
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
7
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
4
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Clinical Genetics Group, University of Otago
|
6
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
7
|
Genomic Medicine Lab, University of California San Francisco
|
4
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
7
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
4
|
2
|
0 |
0 |
0 |
0 |
0 |
6
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
6
|
Undiagnosed Diseases Network, NIH
|
3
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
3
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
2
|
1
|
1
|
1
|
0 |
0 |
0 |
6
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
1
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
6
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
1
|
1
|
1
|
0 |
2
|
0 |
0 |
0 |
5
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
2
|
3
|
0 |
0 |
0 |
0 |
0 |
5
|
Istanbul Faculty of Medicine, Istanbul University
|
3
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
5
|
Molecular Diagnostics Lab, Nemours Children's Health, Delaware
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Harry Perkins Institute Of Medical Research, University Of Western Australia
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
2
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
4
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
2
|
2
|
0 |
0 |
0 |
0 |
0 |
4
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
4
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Counsyl
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Breda Genetics srl
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Lifecell International Pvt. Ltd
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
DASA
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Solve-RD Consortium
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Dr.Nikuei Genetic Center
|
0 |
0 |
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Centre de Genetique Humaine, Institut de Pathologie et de Genetique
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, Seoul National University Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
2
|
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 |
2
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Ege University Pediatric Genetics, Ege University
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Rare Disease Group, Clinical Genetics, Karolinska Institutet
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Pediatric Genomics Discovery Program, Yale University
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Functional Genomics, Research Centre for Medical Genetics
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Reproductive Health Research and Development, BGI Genomics
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Center for Reproductive Medicine, Peking University Third Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Genetics Lab, CHRU Brest
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Joe DiMaggio Children's Hospital, Memorial Healthcare System
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MVZ Dr. Eberhard & Partner Dortmund
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Blueprint Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CHU Sainte-Justine Research Center, University of Montreal
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dobyns Lab, Seattle Children's Research Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Research Center for Immunodeficiencies, Tehran University of Medical Sciences
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Christopher A. Walsh Laboratory, Boston Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Medicine, Nationwide Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Uniklinik RWTH Aachen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
The Spine Surgery of The First Affiliated Hospital, Sun Yat-sen University
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Medical Genetics Clinic, Mersin Women and Children Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Heidelberg University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Jianshe Wang Lab, Department of Pediatrics, Jinshan Hospital of Fudan University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Medical Genetics, Mumbai
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics Laboratory, West China Hospital, Sichuan University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics laboratory, Necker Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Iowa Institute Of Oral Health Research, University of Iowa
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Pars Genome Lab
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric Genetics Clinic, Sheba Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Diagnostics Department, Viafet Genomics Laboratory
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
JKU Lab, Dept of Paediatrics, Johannes Kepler University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Liaoning Province Research Institute of Family Planning, China Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Breakthrough Genomics, Breakthrough Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Fetal and Placental Pathology Unit, Hospital Habib Bougatfa
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Coban-Akdemir Lab, University of Texas Health Science Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Igenomix - Part of Vitrolife Group, Igenomix
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics Department, Catlab
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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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. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
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