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 |
likely risk allele |
risk factor |
not provided |
total |
984
|
729
|
4683
|
4508
|
906
|
8
|
1
|
10
|
55
|
11486
|
Gene and significance breakdown #
Total genes and gene combinations: 138
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
likely risk allele |
risk factor |
not provided |
total |
RTEL1, RTEL1-TNFRSF6B
|
121
|
56
|
1001
|
1642
|
101
|
0 |
0 |
0 |
0 |
2903
|
TERT
|
87
|
50
|
1108
|
1192
|
67
|
1
|
0 |
0 |
19
|
2427
|
INF2
|
22
|
19
|
497
|
670
|
147
|
0 |
0 |
0 |
1
|
1258
|
PARN
|
31
|
23
|
331
|
281
|
25
|
0 |
0 |
0 |
1
|
688
|
CFTR
|
237
|
122
|
80
|
3
|
3
|
0 |
0 |
2
|
0 |
442
|
NBN
|
31
|
120
|
215
|
7
|
2
|
0 |
0 |
0 |
1
|
369
|
PDGFRB
|
5
|
1
|
90
|
177
|
80
|
0 |
0 |
0 |
2
|
351
|
PAX2
|
28
|
24
|
144
|
100
|
18
|
0 |
0 |
0 |
0 |
306
|
LOC110806263, TERT
|
11
|
1
|
86
|
99
|
3
|
0 |
0 |
0 |
4
|
199
|
PLCE1
|
22
|
10
|
125
|
20
|
25
|
0 |
0 |
0 |
0 |
196
|
TRPC6
|
10
|
14
|
92
|
14
|
36
|
0 |
0 |
0 |
0 |
158
|
PDGFRA
|
0 |
0 |
87
|
15
|
52
|
0 |
0 |
0 |
0 |
152
|
WT1
|
13
|
13
|
75
|
28
|
15
|
0 |
0 |
0 |
0 |
139
|
NPHS2
|
40
|
56
|
37
|
11
|
10
|
0 |
0 |
0 |
0 |
132
|
CD2AP
|
4
|
4
|
67
|
19
|
31
|
0 |
0 |
0 |
0 |
123
|
SLC20A2
|
24
|
19
|
38
|
16
|
32
|
0 |
0 |
0 |
2
|
118
|
ACTN4
|
5
|
7
|
31
|
27
|
40
|
0 |
0 |
0 |
0 |
100
|
PRF1
|
44
|
36
|
17
|
0 |
0 |
0 |
0 |
0 |
0 |
96
|
SCNN1A
|
6
|
5
|
35
|
12
|
40
|
0 |
0 |
0 |
0 |
92
|
SCNN1B
|
9
|
2
|
32
|
19
|
34
|
0 |
0 |
0 |
0 |
89
|
MYO1E
|
5
|
2
|
35
|
25
|
6
|
0 |
0 |
0 |
1
|
73
|
LOC107982234, WT1
|
2
|
2
|
53
|
9
|
7
|
0 |
0 |
0 |
0 |
69
|
AXDND1, NPHS2
|
15
|
29
|
25
|
5
|
8
|
0 |
0 |
0 |
0 |
68
|
FLNA
|
5
|
1
|
29
|
17
|
3
|
0 |
0 |
0 |
1
|
55
|
ANLN
|
2
|
0 |
19
|
6
|
24
|
0 |
0 |
0 |
1
|
51
|
CFTR, LOC111674472
|
27
|
14
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
48
|
COQ8B
|
16
|
9
|
15
|
2
|
3
|
0 |
0 |
0 |
11
|
42
|
MYORG
|
10
|
11
|
23
|
1
|
2
|
0 |
0 |
0 |
0 |
39
|
CRB2
|
6
|
6
|
20
|
6
|
1
|
0 |
0 |
0 |
0 |
38
|
COQ6, ENTPD5
|
11
|
4
|
14
|
2
|
4
|
0 |
0 |
0 |
8
|
35
|
NOC3L, PLCE1
|
1
|
1
|
19
|
6
|
7
|
0 |
0 |
0 |
0 |
33
|
SFTPC
|
0 |
1
|
8
|
12
|
13
|
0 |
0 |
0 |
0 |
33
|
NUP93
|
6
|
5
|
15
|
2
|
5
|
0 |
0 |
0 |
0 |
31
|
SBDS
|
11
|
18
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
31
|
LOC110806306, TERC
|
19
|
2
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
25
|
SCNN1G
|
2
|
1
|
11
|
6
|
6
|
0 |
0 |
0 |
0 |
25
|
APOL1
|
0 |
0 |
7
|
11
|
0 |
0 |
1
|
4
|
0 |
22
|
CFTR, LOC111674475
|
17
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
21
|
PTPRO
|
2
|
0 |
10
|
7
|
2
|
0 |
0 |
0 |
0 |
21
|
IFNG
|
0 |
0 |
15
|
2
|
2
|
0 |
0 |
0 |
0 |
19
|
RTEL1
|
9
|
5
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
19
|
LOC126860438, NBN
|
1
|
5
|
9
|
1
|
0 |
0 |
0 |
0 |
0 |
16
|
NUP107
|
5
|
4
|
5
|
1
|
3
|
0 |
0 |
0 |
0 |
16
|
ABCA3
|
0 |
3
|
12
|
0 |
0 |
0 |
0 |
0 |
0 |
15
|
MUC5B
|
0 |
0 |
8
|
4
|
2
|
1
|
0 |
1
|
0 |
15
|
NUP205
|
1
|
1
|
7
|
1
|
5
|
0 |
0 |
0 |
0 |
15
|
SFTPA2
|
5
|
3
|
4
|
0 |
4
|
0 |
0 |
0 |
0 |
15
|
SLC25A38
|
0 |
0 |
7
|
3
|
3
|
0 |
0 |
0 |
1
|
14
|
LOC130000303, SLC20A2, SMIM19
|
0 |
0 |
12
|
0 |
1
|
0 |
0 |
0 |
0 |
13
|
PDGFB
|
5
|
4
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
XPR1
|
4
|
1
|
6
|
1
|
1
|
0 |
0 |
0 |
0 |
13
|
CFTR, LOC111674477
|
6
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
CD2AP, CD2AP-DT, LOC129996604
|
0 |
0 |
5
|
0 |
5
|
0 |
0 |
0 |
0 |
10
|
GFI1
|
0 |
0 |
5
|
4
|
1
|
0 |
0 |
0 |
0 |
10
|
BMP1, SFTPC
|
0 |
0 |
0 |
1
|
8
|
0 |
0 |
0 |
0 |
9
|
EMP2
|
3
|
1
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
8
|
JAM2
|
8
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
LTBR, SCNN1A
|
0 |
0 |
1
|
3
|
4
|
0 |
0 |
0 |
0 |
8
|
ARHGDIA
|
3
|
1
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
7
|
CFTR, LOC113664106
|
6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
INF2, LOC130056630
|
0 |
0 |
3
|
3
|
1
|
0 |
0 |
0 |
0 |
7
|
COQ6
|
1
|
1
|
1
|
2
|
1
|
0 |
0 |
0 |
0 |
5
|
BMP1, LOC129999976, SFTPC
|
0 |
0 |
1
|
1
|
2
|
0 |
0 |
0 |
0 |
4
|
NKX2-1, SFTA3
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
SLC20A2, SMIM19
|
0 |
0 |
2
|
0 |
2
|
0 |
0 |
0 |
0 |
4
|
WNT1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
3
|
0 |
4
|
AHRR, BRD9, CEP72, EXOC3, NKD2, PDCD6, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
IFIH1
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
IL1B
|
0 |
0 |
0 |
0 |
0 |
3
|
0 |
0 |
0 |
3
|
INF2, LOC130056627
|
0 |
0 |
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
LOC110806263, LOC110806264, LOC123493259, TERT
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
RTEL1, TNFRSF6B
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
TERC
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
UNC119
|
0 |
0 |
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
CFTR, LOC111674463
|
0 |
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
CFTR, LOC113633877
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FLNA, LOC107988032
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
KRT18, LOC106096416
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC110120845, PAX2
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC110806264, TERT
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
LOC112272600, MYO1E
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
LOC130007233, SCNN1A, TNFRSF1A
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
MT-CO1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
NPHS1
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SCNN1A, TNFRSF1A
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
TOLLIP
|
0 |
0 |
2
|
0 |
0 |
1
|
0 |
0 |
0 |
2
|
ACTN4, LOC130064361
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ADSS1, AHNAK2, AKT1, BRF1, BTBD6, CDCA4, CEP170B, CLBA1, GPR132, INF2, JAG2, NUDT14, PACS2, PLD4, SIVA1, ZBTB42
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ADSS1, INF2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ARHGAP24
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ARHGDIA, LOC130061973
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ARHGDIA, LOC130061974
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BMP7
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BMPR1B
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BRD9, CEP72, CLPTM1L, IRX4, LPCAT1, MRPL36, NDUFS6, NKD2, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CACNA1A
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
CELSR2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3, TNFRSF6B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CHRNA6, CHRNB3, FNTA, HOOK3, RNF170, SLC20A2, SMIM19, THAP1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CLPTM1L, SLC6A18, SLC6A19, SLC6A3, TERT
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CLPTM1L, SLC6A3, TERT
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CLPTM1L, TERT
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CTC1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DDX41
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DIPK1A, RPL5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DSP
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DTNBP1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DUOX2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FAM13A
|
0 |
0 |
1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FANCM
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FAT1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GFI1, LOC129930930
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HIF1AN, NDUFB8, PAX2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HPS4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL1RN
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KRT18, KRT8, LOC106096416
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LAMA3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LDHAL6B, MYO1E
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC126861467, PTPRO
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC128772425, LOC128772426, RTEL1, RTEL1-TNFRSF6B
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC130004381, PLCE1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC130060555, UNC119
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MMP1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MMP19
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MYH7
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NKD2, SLC12A7, SLC6A18, SLC6A19, TERT, TRIP13
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NKX2-1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
POLG
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RRM2B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RTKN2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SFTPA1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SLC6A18, SLC6A19, TERT
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SYNPO
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TINF2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
TMOD1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TRIM63
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
likely risk allele |
risk factor |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
272
|
114
|
3101
|
4124
|
377
|
0 |
0 |
0 |
0 |
7988
|
Illumina Laboratory Services, Illumina
|
3
|
5
|
603
|
144
|
420
|
0 |
0 |
0 |
0 |
1148
|
Baylor Genetics
|
397
|
342
|
267
|
0 |
0 |
0 |
0 |
0 |
0 |
1006
|
Fulgent Genetics, Fulgent Genetics
|
133
|
41
|
479
|
301
|
37
|
0 |
0 |
0 |
0 |
991
|
Genome-Nilou Lab
|
11
|
26
|
13
|
16
|
174
|
0 |
0 |
0 |
0 |
240
|
OMIM
|
184
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
0 |
191
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
22
|
11
|
49
|
0 |
0 |
0 |
0 |
0 |
0 |
82
|
Johns Hopkins Genomics, Johns Hopkins University
|
5
|
6
|
46
|
4
|
1
|
0 |
0 |
0 |
0 |
62
|
Counsyl
|
8
|
30
|
20
|
2
|
0 |
0 |
0 |
0 |
0 |
60
|
GeneReviews
|
15
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
45
|
60
|
Precision Medicine Center, Zhengzhou University
|
14
|
20
|
17
|
0 |
0 |
0 |
0 |
0 |
0 |
51
|
Revvity Omics, Revvity
|
9
|
8
|
33
|
0 |
0 |
0 |
0 |
0 |
0 |
50
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
12
|
6
|
27
|
2
|
0 |
0 |
0 |
0 |
0 |
47
|
3billion
|
14
|
11
|
14
|
3
|
0 |
0 |
0 |
0 |
0 |
42
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
3
|
3
|
28
|
6
|
0 |
0 |
0 |
0 |
0 |
40
|
MVZ Medizinische Genetik Mainz
|
2
|
10
|
28
|
0 |
0 |
0 |
0 |
0 |
0 |
40
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
6
|
8
|
22
|
1
|
0 |
0 |
0 |
0 |
0 |
37
|
Neuberg Centre For Genomic Medicine, NCGM
|
5
|
9
|
21
|
0 |
0 |
0 |
0 |
0 |
0 |
35
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
22
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
31
|
SIB Swiss Institute of Bioinformatics
|
1
|
8
|
17
|
0 |
0 |
0 |
0 |
0 |
0 |
26
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
9
|
9
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
24
|
Alder lab, University of Pittsburgh
|
1
|
3
|
20
|
0 |
0 |
0 |
0 |
0 |
0 |
24
|
Institute of Human Genetics, University of Leipzig Medical Center
|
7
|
3
|
12
|
0 |
0 |
0 |
0 |
0 |
0 |
22
|
Mendelics
|
6
|
3
|
4
|
2
|
5
|
0 |
1
|
0 |
0 |
21
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
10
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
17
|
Molecular Biology Laboratory, Fundació Puigvert
|
6
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
15
|
Athena Diagnostics
|
0 |
0 |
0 |
0 |
14
|
0 |
0 |
0 |
0 |
14
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
3
|
1
|
6
|
0 |
2
|
0 |
0 |
0 |
0 |
12
|
Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology
|
2
|
2
|
8
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
Myriad Genetics, Inc.
|
4
|
7
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
4
|
4
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
10
|
0 |
0 |
0 |
0 |
11
|
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center
|
0 |
11
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
5
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
9
|
0 |
0 |
0 |
0 |
9
|
University of Washington Center for Mendelian Genomics, University of Washington
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
3
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
4
|
5
|
0 |
0 |
0 |
0 |
9
|
Laboratory of Medical Genetics, University of Torino
|
0 |
9
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
9
|
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas
|
0 |
0 |
3
|
0 |
0 |
8
|
0 |
0 |
0 |
9
|
Molecular Diagnostics Lab, Nemours Children's Health, Delaware
|
2
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
0 |
8
|
Human Genetics Disease in Children – Taif University, Taif University
|
3
|
1
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
8
|
Degerman lab, Umeå University
|
5
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
8
|
0 |
0 |
0 |
0 |
0 |
8
|
New York Genome Center
|
1
|
2
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
MGZ Medical Genetics Center
|
0 |
3
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
1
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Undiagnosed Diseases Network, NIH
|
4
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
3
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Molecular Genetics, Royal Melbourne Hospital
|
3
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Blueprint Genetics
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
2
|
2
|
0 |
0 |
0 |
0 |
5
|
Godley laboratory, The University of Chicago
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Dr.Nikuei Genetic Center
|
1
|
0 |
0 |
3
|
1
|
0 |
0 |
0 |
0 |
5
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
4
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
4
|
0 |
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 |
0 |
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Genomics England Pilot Project, Genomics England
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Genetic Services Laboratory, University of Chicago
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Department of Neurology, University Hospital of Strasbourg
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
DASA
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Radiation Cancer Biology Lab, University of Rajasthan Jaipur
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Hadassah Hebrew University Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Yale Center for Mendelian Genomics, Yale University
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genetics Group, University of Otago
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Medical Genomics, Royal Prince Alfred Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Genetics Lab, CHRU Brest
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Human Developmental Genetics, Institut Pasteur
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Eurofins-Biomnis
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Rademakers Lab, Mayo Clinic
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Bone Marrow Failure laboratory, Queen Mary University London
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Translational Omics - GOSgene, University College London
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Biochemistry and Genetics, University of Turku
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Kere lab, Karolinska Institutet
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Region Ostergotland
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Ege University Pediatric Genetics, Ege University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Tehran Medical Genetics Laboratory
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
University of Iowa Renal Genetics Clinic, University of Iowa
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neurology Laboratory, National Cheng Kung University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomics, Clalit Research Institute, Clalit Health Care
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Arcensus
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Epi-/Genome lab, Department of Hematology, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Shengli Clinical Medical College Of Fujian Medical University, Fujian Provincial Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Solve-RD Consortium
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Breakthrough Genomics, Breakthrough Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
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