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 |
not provided |
total |
1256
|
521
|
3747
|
4661
|
345
|
2
|
10101
|
Gene and significance breakdown #
Total genes and gene combinations: 57
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
CEP290
|
511
|
112
|
943
|
1478
|
90
|
2
|
3026
|
CC2D2A
|
181
|
82
|
618
|
878
|
52
|
0 |
1722
|
RPGRIP1L
|
206
|
77
|
567
|
772
|
49
|
0 |
1605
|
TMEM67
|
111
|
79
|
353
|
429
|
26
|
0 |
946
|
MKS1
|
83
|
77
|
289
|
417
|
18
|
0 |
824
|
TCTN2
|
28
|
20
|
260
|
194
|
26
|
0 |
508
|
TMEM231
|
30
|
7
|
157
|
126
|
16
|
0 |
334
|
TCTN1
|
20
|
12
|
140
|
140
|
14
|
0 |
326
|
NPHP3, NPHP3-ACAD11
|
14
|
12
|
150
|
40
|
4
|
0 |
219
|
B9D1
|
3
|
4
|
72
|
67
|
10
|
0 |
149
|
CEP290, RLIG1
|
20
|
6
|
38
|
30
|
1
|
0 |
88
|
TMEM216
|
5
|
14
|
39
|
4
|
7
|
0 |
66
|
LOC130061271, MKS1
|
9
|
3
|
27
|
22
|
1
|
0 |
56
|
B9D2
|
3
|
2
|
15
|
13
|
11
|
0 |
42
|
CEP290, LOC129390514
|
2
|
2
|
12
|
19
|
1
|
0 |
36
|
LOC129937586, NPHP3, NPHP3-ACAD11
|
0 |
0 |
20
|
4
|
0 |
0 |
24
|
B9D1, LOC130060455
|
0 |
0 |
13
|
7
|
2
|
0 |
21
|
LOC130059440, TMEM231
|
3
|
1
|
7
|
6
|
1
|
0 |
18
|
KIF14
|
2
|
1
|
6
|
2
|
3
|
0 |
14
|
TSHB
|
6
|
1
|
3
|
2
|
1
|
0 |
12
|
ATP6V0A2, TCTN2
|
0 |
0 |
1
|
3
|
6
|
0 |
8
|
TXNDC15
|
6
|
2
|
1
|
0 |
0 |
0 |
7
|
LOC105371520, TMEM107
|
3
|
0 |
0 |
0 |
2
|
0 |
5
|
LOC130008755, TCTN1
|
0 |
0 |
0 |
4
|
1
|
0 |
5
|
LOC130059035, RPGRIP1L
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
ATP6V0A2, LOC130009117, TCTN2
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
B9D2, TGFB1
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
LOC129937587, NPHP3, NPHP3-ACAD11
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
TMEM218
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
AKAP1, APPBP2, BCAS3, BRIP1, C17orf47, C17orf67, CA4, CHCT1, CLTC, COIL, CUEDC1, DGKE, DHX40, DYNLL2, DYNLL2-DT, EPX, GDPD1, HEATR6, HSF5, LINC02875, LPO, MIR21, MKS1, MPO, MRPS23, MSI2, MTMR4, NACA2, NOG, OR4D1, OR4D2, PPM1D, PPM1E, PRR11, PTRH2, RAD51C, RNF43, RNFT1, RPS6KB1, SCPEP1, SEPTIN4, SKA2, SMG8, SRSF1, SUPT4H1, TBX2, TBX4, TEX14, TRIM25, TRIM37, TSPOAP1, TUBD1, USP32, VEZF1, VMP1, YPEL2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
AKAP10, ALDH3A1, ALDH3A2, B9D1, EPN2, EPN2-IT1, FAM83G, GRAP, GRAPL, LINC02094, LOC102724624, LOC105371574, LOC121852925, LOC121852926, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862517, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090459, LOC388436, MAPK7, MFAP4, MIR1180, PRPSAP2, RNF112, SLC47A1, SLC47A2, SLC5A10, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SPECC1-DT, TRG-CCC3-1, TRW-CCA2-1, ULK2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC5A10, SMCR8, SNORD3A, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
BST1, CC2D2A, CD38, FAM200B, FBXL5, FGFBP1, FGFBP2, PROM1, TAPT1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
C12orf50, CEP290, KITLG, RLIG1, TMTC3
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CCDC172
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CEP290, LOC129390514, LOC130008346, RLIG1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CEP295
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CHST5, CHST6, TMEM170A, TMEM231
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CHST5, CHST6, TMEM231
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CIMIP2B
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CSPP1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DUOX2
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
EIF2B1, GTF2H3, TCTN2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
EVC2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
EXOC3L2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
EXOC4, LOC101928861
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FTO, IRX3, IRX5, IRX6, MMP2, RPGRIP1L
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FTO, IRX3, IRX5, RPGRIP1L
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FTO, RPGRIP1L
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
KIAA0586
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PDP1, TMEM67
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SNORD118, TMEM107
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TGFB1
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
TMEM138
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TMEM237
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TTC6
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
1180
|
291
|
3031
|
4556
|
287
|
0 |
9345
|
Illumina Laboratory Services, Illumina
|
0 |
2
|
637
|
50
|
59
|
0 |
747
|
Fulgent Genetics, Fulgent Genetics
|
89
|
76
|
428
|
148
|
2
|
0 |
743
|
Natera, Inc.
|
5
|
2
|
84
|
11
|
7
|
0 |
109
|
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
|
1
|
82
|
0 |
0 |
0 |
0 |
83
|
Counsyl
|
1
|
31
|
33
|
5
|
0 |
0 |
70
|
Genome-Nilou Lab
|
0 |
0 |
14
|
0 |
55
|
0 |
69
|
OMIM
|
48
|
0 |
0 |
0 |
0 |
0 |
48
|
New York Genome Center
|
1
|
1
|
34
|
0 |
0 |
0 |
36
|
Baylor Genetics
|
9
|
2
|
18
|
0 |
0 |
0 |
29
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
9
|
13
|
4
|
0 |
0 |
0 |
26
|
Genetic Services Laboratory, University of Chicago
|
14
|
7
|
3
|
0 |
0 |
0 |
24
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
15
|
8
|
0 |
0 |
0 |
0 |
23
|
Myriad Genetics, Inc.
|
1
|
18
|
0 |
0 |
0 |
0 |
19
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
6
|
9
|
0 |
0 |
0 |
0 |
15
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
6
|
0 |
0 |
0 |
0 |
8
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
3
|
1
|
4
|
0 |
0 |
0 |
8
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
3billion
|
3
|
1
|
3
|
0 |
0 |
0 |
7
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
5
|
0 |
6
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
Johns Hopkins Genomics, Johns Hopkins University
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
1
|
1
|
0 |
0 |
3
|
Suma Genomics
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
UW Hindbrain Malformation Research Program, University of Washington
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Blueprint Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Rare Disease Group, Clinical Genetics, Karolinska Institutet
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Heidelberg University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Clinical Genetics and Genetic Counseling, Mediscan Systems
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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