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 |
established risk allele |
pathogenic, low penetrance |
risk factor |
not provided |
total |
1068
|
681
|
1675
|
1116
|
453
|
3
|
1
|
1
|
2
|
3
|
35
|
4567
|
Gene and significance breakdown #
Total genes and gene combinations: 55
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
established risk allele |
pathogenic, low penetrance |
risk factor |
not provided |
total |
F5
|
54
|
30
|
205
|
505
|
98
|
0 |
0 |
1
|
1
|
1
|
3
|
767
|
VWF
|
214
|
175
|
306
|
57
|
65
|
0 |
0 |
0 |
0 |
1
|
19
|
703
|
F8
|
374
|
170
|
107
|
29
|
26
|
0 |
0 |
0 |
0 |
0 |
1
|
658
|
F9
|
164
|
67
|
53
|
196
|
45
|
0 |
1
|
0 |
0 |
0 |
3
|
482
|
F2
|
24
|
10
|
43
|
201
|
18
|
0 |
0 |
0 |
1
|
1
|
0 |
280
|
F11
|
44
|
114
|
121
|
11
|
19
|
0 |
0 |
0 |
0 |
0 |
1
|
269
|
GGCX
|
4
|
3
|
127
|
16
|
29
|
0 |
0 |
0 |
0 |
0 |
1
|
180
|
F7
|
31
|
44
|
97
|
8
|
6
|
0 |
0 |
0 |
0 |
0 |
3
|
169
|
F13A1
|
26
|
12
|
65
|
7
|
17
|
0 |
0 |
0 |
0 |
0 |
0 |
123
|
MCFD2
|
8
|
3
|
75
|
6
|
25
|
0 |
0 |
0 |
0 |
0 |
0 |
115
|
FGB
|
10
|
2
|
64
|
5
|
21
|
0 |
0 |
0 |
0 |
0 |
0 |
100
|
LMAN1
|
5
|
1
|
68
|
7
|
14
|
0 |
0 |
0 |
0 |
0 |
0 |
95
|
F10
|
18
|
22
|
45
|
3
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
90
|
SERPINE1
|
2
|
0 |
52
|
9
|
14
|
0 |
0 |
0 |
0 |
0 |
3
|
78
|
FGA
|
14
|
8
|
37
|
8
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
70
|
F13B
|
6
|
1
|
48
|
2
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
61
|
PLG
|
9
|
2
|
28
|
7
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
53
|
FGG
|
14
|
7
|
27
|
3
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
51
|
F12
|
4
|
3
|
30
|
6
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
46
|
THBD
|
5
|
0 |
33
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
40
|
VKORC1
|
1
|
0 |
13
|
4
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
23
|
KLKB1
|
9
|
4
|
1
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
17
|
F12, SLC34A1
|
1
|
0 |
0 |
10
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
14
|
GP1BA
|
6
|
2
|
3
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
1
|
13
|
F10, F7
|
0 |
0 |
0 |
10
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
KNG1
|
5
|
0 |
1
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
9
|
GGCX, MAT2A
|
0 |
0 |
6
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
LOC129933675, MCFD2
|
0 |
0 |
7
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
LMAN1, LOC130062607
|
1
|
0 |
3
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
GGCX, LOC129934217
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GP1BA, LOC130060044
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
LOC126859861, PLG
|
2
|
0 |
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
SERPINF2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
ADPRHL1, ANKRD10, ARHGEF7, ATP11A, ATP11AUN, ATP4B, C13orf46, CARS2, CDC16, CFAP97D2, CHAMP1, COL4A1, COL4A2, CUL4A, DCUN1D2, F10, F7, GAS6, GAS6-DT, GRK1, GRTP1, ING1, IRS2, LAMP1, LINC00354, LINC00368, LINC00370, LINC00396, LINC00399, LINC00404, LINC00431, LINC00452, LINC00454, LINC00552, LINC00567, LINC00676, LINC01043, LINC01044, LINC01070, LINC02337, LINC03032, LINC03061, LINC03082, LOC100506016, LOC101060553, LOC101928730, LOC102725228, LOC105370362, LOC107992391, LOC110121336, LOC112163643, LOC112163644, LOC112163645, LOC112163646, LOC116268457, LOC121468007, LOC121838584, LOC124946339, LOC124946340, LOC124946341, LOC124946342, LOC124946343, LOC124946344, LOC124946345, LOC124946346, LOC124946347, LOC124946348, LOC126861846, LOC126861847, LOC126861848, LOC126861849, LOC126861850, LOC126861851, LOC126861852, LOC126861853, LOC126861854, LOC126861855, LOC126861856, LOC126861857, LOC126861858, LOC126861859, LOC126861860, LOC126861861, LOC126861862, LOC126861863, LOC126861864, LOC126861865, LOC126861866, LOC126861867, LOC126861868, LOC126861869, LOC126861870, LOC126861871, LOC126861872, LOC126861873, LOC126861874, LOC126861875, LOC126861876, LOC126861877, LOC128772388, LOC128772389, LOC128772390, LOC128772391, LOC128772392, LOC128772393, LOC129390610, LOC130010099, LOC130010100, LOC130010101, LOC130010102, LOC130010103, LOC130010104, LOC130010105, LOC130010106, LOC130010107, LOC130010108, LOC130010109, LOC130010110, LOC130010111, LOC130010112, LOC130010113, LOC130010114, LOC130010115, LOC130010116, LOC130010117, LOC130010118, LOC130010119, LOC130010120, LOC130010121, LOC130010122, LOC130010123, LOC130010124, LOC130010125, LOC130010126, LOC130010127, LOC130010128, LOC130010129, LOC130010130, LOC130010131, LOC130010132, LOC130010133, LOC130010134, LOC130010135, LOC130010136, LOC130010137, LOC130010138, LOC130010139, LOC130010140, LOC130010141, LOC130010142, LOC130010143, LOC130010144, LOC130010145, LOC130010146, LOC130010147, LOC130010148, LOC130010149, LOC130010150, LOC130010151, LOC130010152, LOC130010153, LOC130010154, LOC130010155, LOC130010156, LOC130010157, LOC130010158, LOC130010159, LOC130010160, LOC130010161, LOC130010162, LOC130010163, LOC130010164, LOC130010165, LOC130010166, LOC130010167, LOC130010168, LOC130010169, LOC130010170, LOC130010171, LOC130010172, LOC130010173, LOC130010174, LOC130010175, LOC130010176, LOC130010177, LOC130010178, LOC130010179, LOC130010180, LOC130010181, LOC130010182, LOC130010183, LOC130010184, LOC130010185, LOC130010186, LOC130010187, LOC130010188, LOC130010189, LOC130010190, LOC130010191, LOC130010192, LOC130010193, LOC130010194, LOC130010195, LOC130010196, LOC130010197, LOC130010198, LOC130010199, LOC130010200, LOC130010201, LOC130010202, LOC130010203, LOC130010204, LOC130010205, LOC130010206, LOC130010207, LOC130010208, LOC130010209, LOC130010210, LOC130010211, LOC130010212, LOC130010213, LOC130010214, LOC130010215, LOC130010216, LOC130010217, LOC130010218, LOC130494219, LOC132090172, LOC132090173, LOC132090174, MCF2L, MIR4502, MIR548AR, MIR8073, MIR8075, MYO16, NAXD, PCID2, PRECSIT, PROZ, RAB20, RASA3, RASA3-IT1, SOX1, SOX1-OT, SPACA7, SWINGN, TEX29, TFDP1, TMCO3, TMEM255B, TUBGCP3, UPF3A
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ANKRD10, ANKRD10-IT1, ARHGEF7, ATP11A, ATP11AUN, CARS2, COL4A1, COL4A2, F10, F7, ING1, LINC00567, MCF2L, NAXD, RAB20, SOX1, SPACA7, TEX29, TUBGCP3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AP1S1, MOGAT3, NAT16, PLOD3, SERPINE1, TRIM56, VGF
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATP11C, CXorf66, F9, MCF2, SOX3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATP11C, F9, MCF2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDH23
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFI
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CYP4V2, DBET, DUX4, F11, FAT1, FRG1, FRG1-DT, FRG2, KLKB1, LINC01060, LINC01262, LINC01596, LINC02374, LINC02434, LINC02492, LINC02508, LINC02514, LINC02515, LOC101930028, LOC105377603, LOC121056755, LOC121725196, LOC123493253, LOC123493254, LOC123493255, LOC126088085, LOC126807252, LOC126807253, LOC126807254, LOC126807255, LOC126807256, LOC126807257, LOC126807258, LOC126807259, LOC126807260, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC126807272, LOC126807273, LOC126807274, LOC126807275, LOC126807276, LOC126807277, LOC126807278, LOC126807279, LOC129389253, LOC129993527, LOC132089105, LOC132089106, LOC132089107, LOC132089108, LOC132089109, LOC132089110, LOC132090718, LOC339975, MTNR1A, TRIML1, TRIML2, ZFP42
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CYP4V2, F11, KLKB1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
F2, ZNF408
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
F8, F8A1, FUNDC2, H2AB1, LOC106146143, LOC106146150, LOC125467795, LOC126863349, LOC130068888, LOC130068889, LOC130068890, LOC130068891, LOC130068892, LOC130068893, LOC130068894, MIR1184-1, MPP1, SMIM9
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
F8, F8A1, H2AB1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
F8, F8A1, H2AB1, LOC106146143, LOC106146150, LOC125467795, LOC126863349, LOC130068891, LOC130068892, MIR1184-1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
F8, F8A1, LOC106146150
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
F8, FUNDC2, LOC130068894
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
F8, LOC106146143, LOC125467795, LOC130068891, LOC130068892
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
F8, LOC126863349, LOC130068891, LOC130068892
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
F8, LOC130068891, LOC130068892
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FGG, LOC114827822
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GALNS
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC126806115, LOC126806116, LOC400940, MIR7158, SILC1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SERPINA1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
established risk allele |
pathogenic, low penetrance |
risk factor |
not provided |
total |
Illumina Laboratory Services, Illumina
|
17
|
8
|
1005
|
244
|
258
|
0 |
0 |
0 |
0 |
0 |
0 |
1479
|
Invitae
|
125
|
36
|
66
|
814
|
141
|
0 |
1
|
0 |
1
|
0 |
0 |
1184
|
OMIM
|
553
|
0 |
1
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
557
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
75
|
151
|
72
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
298
|
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
|
142
|
66
|
66
|
4
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
280
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
49
|
101
|
124
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
273
|
Fulgent Genetics, Fulgent Genetics
|
32
|
18
|
70
|
35
|
15
|
0 |
0 |
0 |
0 |
0 |
0 |
170
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
24
|
29
|
108
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
166
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
70
|
50
|
23
|
9
|
8
|
0 |
0 |
0 |
0 |
0 |
0 |
160
|
Genetics and Molecular Pathology, SA Pathology
|
35
|
51
|
34
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
123
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
79
|
35
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
114
|
Genome-Nilou Lab
|
0 |
2
|
0 |
4
|
95
|
0 |
0 |
0 |
0 |
0 |
0 |
101
|
Laboratory of Hematology, Radboud University Medical Center
|
53
|
20
|
19
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
95
|
Counsyl
|
4
|
56
|
32
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
94
|
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen
|
36
|
8
|
6
|
0 |
15
|
0 |
0 |
0 |
0 |
0 |
0 |
65
|
3billion
|
22
|
13
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
42
|
Natera, Inc.
|
3
|
0 |
5
|
25
|
8
|
0 |
0 |
0 |
0 |
0 |
0 |
41
|
Mendelics
|
16
|
4
|
6
|
2
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
34
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
4
|
9
|
21
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
34
|
Baylor Genetics
|
9
|
6
|
18
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
33
|
Neuberg Centre For Genomic Medicine, NCGM
|
5
|
9
|
17
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
31
|
Revvity Omics, Revvity
|
12
|
12
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
29
|
GeneReviews
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
28
|
29
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
6
|
17
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
25
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
6
|
9
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
22
|
Myriad Genetics, Inc.
|
0 |
14
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
16
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
5
|
0 |
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz
|
10
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
Versiti Diagnostic Laboratories, Versiti, Inc
|
8
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Department of Laboratory Medicine, Ruijin Hospital
|
9
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Institute of Human Genetics, University Hospital Muenster
|
2
|
4
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
4
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
3
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Johns Hopkins Genomics, Johns Hopkins University
|
4
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
6
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
3
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center
|
0 |
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
2
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Reproductive Health Research and Development, BGI Genomics
|
4
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
0 |
6
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
New York Genome Center
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
4
|
Biochemistry Laboratory, Bechir Hamza Children's Hospital
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Basic Medical Sciences, Khyber Medical University, Peshawar
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Lifecell International Pvt. Ltd
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
UCLA Clinical Genomics Center, UCLA
|
1
|
1
|
0 |
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 |
0 |
2
|
Molecular Genetics and Enzymology, National Research Centre
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Variantyx, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
2
|
Center for Precision Medicine, Vanderbilt University Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Genetic Engineering, National Medical Research Center for Hematology
|
0 |
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Suma Genomics
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MVZ Dr. Eberhard & Partner Dortmund
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
SNPedia
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
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 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genatak
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics, Necip Fazıl Sehir Hastanesi
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Hematology and Blood Transfusion, Iran University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Human Genetics Section, Sidra Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics Laboratory, West China Hospital, Sichuan University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Diagnostics Department, Viafet Genomics Laboratory
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Palindrome, Gene Kavoshgaran Aria
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Arcensus
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Bayan National Lab for Medical Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
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. 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
professional.