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 |
604
|
467
|
3031
|
1404
|
354
|
15
|
5756
|
Gene and significance breakdown #
Total genes and gene combinations: 77
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
KIAA0586
|
83
|
35
|
586
|
407
|
56
|
2
|
1166
|
CSPP1
|
74
|
18
|
422
|
275
|
33
|
1
|
819
|
CEP290
|
83
|
40
|
252
|
61
|
21
|
2
|
449
|
CEP41
|
13
|
5
|
228
|
113
|
24
|
0 |
372
|
TMEM237
|
25
|
12
|
203
|
113
|
23
|
0 |
357
|
TMEM231
|
30
|
9
|
158
|
126
|
16
|
0 |
333
|
AHI1
|
62
|
36
|
174
|
40
|
20
|
0 |
315
|
RPGRIP1L
|
18
|
35
|
191
|
40
|
17
|
1
|
299
|
CC2D2A
|
48
|
18
|
124
|
11
|
22
|
0 |
216
|
ARFGEF1, CSPP1
|
8
|
5
|
103
|
66
|
10
|
0 |
190
|
NPHP1
|
12
|
39
|
86
|
16
|
4
|
0 |
156
|
ATCAY
|
2
|
0 |
97
|
17
|
29
|
0 |
145
|
VLDLR
|
11
|
11
|
84
|
11
|
15
|
5
|
133
|
TMEM138
|
13
|
3
|
70
|
42
|
6
|
0 |
126
|
TMEM67
|
23
|
14
|
44
|
23
|
2
|
0 |
105
|
MKS1
|
7
|
40
|
44
|
3
|
5
|
1
|
94
|
TMEM216
|
6
|
25
|
48
|
12
|
13
|
1
|
94
|
ATP8A2
|
12
|
15
|
19
|
1
|
7
|
0 |
52
|
WDR81
|
4
|
4
|
24
|
8
|
8
|
2
|
49
|
WDR73
|
10
|
11
|
19
|
6
|
3
|
0 |
47
|
CWF19L1
|
9
|
10
|
3
|
0 |
1
|
0 |
22
|
CPLANE1
|
8
|
11
|
0 |
0 |
0 |
0 |
19
|
LOC130059440, TMEM231
|
3
|
1
|
8
|
6
|
1
|
0 |
19
|
CEP290, RLIG1
|
3
|
6
|
7
|
0 |
0 |
0 |
16
|
LOC129935417, TMEM237
|
0 |
0 |
10
|
3
|
3
|
0 |
16
|
PMPCA
|
4
|
1
|
6
|
0 |
2
|
0 |
13
|
ARL13B
|
0 |
9
|
0 |
0 |
0 |
0 |
9
|
CA8
|
2
|
3
|
0 |
0 |
4
|
0 |
9
|
INPP5E
|
3
|
6
|
0 |
0 |
0 |
0 |
9
|
CEP104
|
1
|
7
|
0 |
0 |
0 |
0 |
8
|
TCTN2
|
2
|
5
|
0 |
0 |
0 |
0 |
7
|
LOC126860792, PMPCA
|
2
|
0 |
3
|
1
|
0 |
0 |
6
|
NPHP3, NPHP3-ACAD11
|
1
|
5
|
0 |
0 |
0 |
0 |
6
|
B9D2
|
1
|
4
|
0 |
0 |
0 |
0 |
5
|
KIF14
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
LOC130061271, MKS1
|
0 |
3
|
1
|
1
|
0 |
0 |
5
|
TCTN1
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
ZNF592
|
0 |
0 |
3
|
0 |
2
|
0 |
5
|
CEP290, LOC129390514
|
1
|
0 |
1
|
1
|
0 |
0 |
3
|
LOC126806306, NPHP1
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
LOC130001468, VLDLR
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
LOC130059035, RPGRIP1L
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
B9D1
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
CHUK-DT, CWF19L1
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
IFT140
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
LOC129937586, NPHP3, NPHP3-ACAD11
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
LOC130003010, PMPCA
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
LOC130004408, TCTN3
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
TCTN3
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
intergenic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ALS2, MPP4, TMEM237
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARFGEF1, CPA6, CSPP1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
C2CD6, LOC129935416, LOC129935417, MPP4, TMEM237
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
C2CD6, MPP4, STRADB, TMEM237
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
C2CD6, TMEM237
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CAV3, OXTR
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CEP104, LOC126805586
|
0 |
1
|
0 |
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
|
COPS5, CSPP1, PPP1R42
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ENG
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
IFT140, LOC105371046
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
IFT140, LOC126862260
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC130001468, LOC130001469, LOC130001470, LOC130001471, LOC130001472, VLDLR
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC130001471, VLDLR
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
LRRCC1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MALL, NPHP1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NPHP3
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
OFD1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PKD2
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
RPE65
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
RPGRIP1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SMAD6
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SOS1
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
220
|
62
|
1593
|
1115
|
149
|
0 |
3139
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
802
|
111
|
133
|
0 |
1047
|
Fulgent Genetics, Fulgent Genetics
|
93
|
83
|
476
|
164
|
2
|
0 |
818
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
51
|
106
|
0 |
0 |
0 |
0 |
157
|
Baylor Genetics
|
24
|
60
|
69
|
0 |
0 |
0 |
153
|
UW Hindbrain Malformation Research Program, University of Washington
|
132
|
3
|
0 |
0 |
0 |
0 |
135
|
Genome-Nilou Lab
|
2
|
3
|
18
|
2
|
88
|
0 |
113
|
OMIM
|
109
|
0 |
2
|
0 |
0 |
0 |
111
|
Counsyl
|
1
|
31
|
33
|
5
|
0 |
0 |
70
|
Revvity Omics, Revvity
|
15
|
9
|
41
|
0 |
0 |
0 |
65
|
New York Genome Center
|
4
|
3
|
42
|
0 |
0 |
0 |
49
|
Natera, Inc.
|
1
|
1
|
19
|
4
|
7
|
0 |
32
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
15
|
7
|
9
|
0 |
0 |
0 |
31
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
2
|
12
|
12
|
0 |
4
|
0 |
30
|
3billion
|
11
|
9
|
6
|
0 |
0 |
0 |
26
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
11
|
5
|
6
|
0 |
0 |
0 |
22
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
4
|
4
|
13
|
0 |
0 |
0 |
21
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
9
|
3
|
7
|
0 |
0 |
0 |
19
|
Myriad Genetics, Inc.
|
1
|
18
|
0 |
0 |
0 |
0 |
19
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
6
|
1
|
9
|
1
|
0 |
0 |
17
|
Institute of Human Genetics, University of Leipzig Medical Center
|
8
|
2
|
6
|
1
|
0 |
0 |
17
|
Genetic Services Laboratory, University of Chicago
|
7
|
4
|
0 |
0 |
0 |
0 |
11
|
Mendelics
|
2
|
5
|
1
|
0 |
2
|
0 |
10
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
5
|
5
|
0 |
0 |
0 |
0 |
10
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
3
|
5
|
2
|
0 |
0 |
0 |
10
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
8
|
1
|
0 |
0 |
0 |
0 |
9
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
1
|
7
|
0 |
9
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
1
|
3
|
0 |
2
|
0 |
7
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
3
|
3
|
0 |
0 |
0 |
0 |
6
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
3
|
2
|
1
|
0 |
0 |
0 |
6
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
1
|
0 |
0 |
4
|
0 |
0 |
5
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
2
|
3
|
0 |
0 |
0 |
0 |
5
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
4
|
0 |
1
|
0 |
0 |
0 |
5
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
2
|
0 |
2
|
0 |
5
|
Laboratory of Genetics in Ophthalmology, Institut Imagine
|
4
|
0 |
1
|
0 |
0 |
0 |
5
|
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Suma Genomics
|
3
|
1
|
1
|
0 |
0 |
0 |
5
|
MGZ Medical Genetics Center
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
2
|
0 |
3
|
TIDEX, University of British Columbia
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Medical Genetics Laboratory, Tarbiat Modares University
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Kids Neuroscience Centre, Sydney Children's Hospitals Network
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Genomics England Pilot Project, Genomics England
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Molecular Diagnostics Laboratory, Seoul National University Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
UCLA Clinical Genomics Center, UCLA
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Hadassah Hebrew University Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Gene Discovery Core-Manton Center, Boston Children's Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Bruce Lefroy Centre, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Medicine Lab, University of California San Francisco
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Human Genetics Laboratory, Faculty of Medicine of Tunis
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Breda Genetics srl
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Bioinformatics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
University of Iowa Renal Genetics Clinic, University of Iowa
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Molecular Biology Laboratory, Fundació Puigvert
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Pars Genome Lab
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
Lifecell International Pvt. Ltd
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
DASA
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Joe DiMaggio Children's Hospital, Memorial Healthcare System
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Movement Disorders Program, Boston Children's Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Translational Omics - GOSgene, University College London
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Manipal Hospitals, Manipal Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Ege University Pediatric Genetics, Ege University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Tehran Medical Genetics Laboratory
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, University of Torino
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Biochemistry, Faculty of Medicine, University of Khartoum
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Credence Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital
|
1
|
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 |
1
|
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