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 |
107
|
42
|
712
|
480
|
138
|
10
|
1391
|
Gene and significance breakdown #
Total genes and gene combinations: 19
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
IFT122
|
36
|
13
|
246
|
233
|
42
|
5
|
530
|
WDR35
|
29
|
12
|
256
|
160
|
54
|
1
|
481
|
WDR19
|
7
|
10
|
130
|
42
|
23
|
2
|
203
|
FGFR2
|
12
|
3
|
28
|
16
|
1
|
0 |
59
|
IFT43
|
1
|
0 |
23
|
12
|
3
|
1
|
39
|
POR
|
12
|
3
|
10
|
2
|
7
|
0 |
32
|
IFT122, LOC126806810
|
0 |
0 |
6
|
8
|
2
|
0 |
13
|
IFT52
|
6
|
0 |
2
|
0 |
1
|
0 |
9
|
LOC129933186, WDR35
|
0 |
0 |
4
|
2
|
1
|
0 |
7
|
IFT122, LOC129937552
|
1
|
0 |
3
|
2
|
1
|
1
|
6
|
IFT140
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
IFT43, TGFB3
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
MATN3, WDR35, WDR35-DT
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
IFT122, MBD4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
IFT122, MBD4, RHO
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC112939934, WDR19
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126860075, POR
|
1
|
0 |
1
|
0 |
0 |
0 |
1
|
MATN3, WDR35
|
0 |
0 |
0 |
1
|
1
|
0 |
1
|
SPAG17
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
45
|
13
|
347
|
371
|
79
|
0 |
855
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
252
|
48
|
63
|
0 |
362
|
Fulgent Genetics, Fulgent Genetics
|
13
|
15
|
188
|
82
|
7
|
0 |
305
|
OMIM
|
44
|
0 |
0 |
0 |
0 |
0 |
44
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
39
|
0 |
39
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
10
|
10
|
Baylor Genetics
|
3
|
0 |
5
|
0 |
0 |
0 |
8
|
Revvity Omics, Revvity
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
Mendelics
|
0 |
2
|
0 |
0 |
3
|
0 |
5
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Rare Disease Group, Clinical Genetics, Karolinska Institutet
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Biology Laboratory, Fundació Puigvert
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Oslo University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Klinisk genetik och genomik Research, Gothenburg University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric Genetics Clinic, Sheba Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
0 |
0 |
0 |
1
|
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.