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 |
total |
|
10
|
26
|
15
|
2
|
0 |
52
|
Gene and significance breakdown #
Total genes and gene combinations: 17
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
|
INPP5E
|
0 |
11
|
8
|
0 |
19
|
|
CFAP20
|
0 |
6
|
1
|
0 |
6
|
|
AHI1
|
2
|
2
|
0 |
0 |
4
|
|
CEP290
|
0 |
3
|
0 |
0 |
3
|
|
GNPTG
|
2
|
0 |
0 |
0 |
2
|
|
IFT122
|
0 |
1
|
0 |
1
|
2
|
|
IFT88
|
0 |
1
|
1
|
0 |
2
|
|
PDE6B
|
1
|
1
|
0 |
0 |
2
|
|
PNPLA6
|
1
|
0 |
1
|
0 |
2
|
|
SNRNP200
|
0 |
0 |
2
|
0 |
2
|
|
USH2A
|
2
|
0 |
0 |
0 |
2
|
|
BEST1
|
0 |
0 |
1
|
0 |
1
|
|
CEP290, RLIG1
|
0 |
1
|
0 |
0 |
1
|
|
GPHN, RDH12
|
1
|
0 |
0 |
0 |
1
|
|
GUCA1A, GUCA1ANB-GUCA1A
|
0 |
0 |
0 |
1
|
1
|
|
LRAT
|
0 |
0 |
1
|
0 |
1
|
|
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY
|
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
4
|
15
|
10
|
1
|
30
|
|
Inherited Eye Disorders lab, UCL Institute of Ophthalmology
|
0 |
6
|
0 |
0 |
6
|
|
Institute of Human Genetics, University Hospital Muenster
|
4
|
0 |
0 |
0 |
4
|
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
3
|
0 |
0 |
3
|
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
2
|
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
2
|
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
2
|
0 |
0 |
2
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
2
|
0 |
2
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
0 |
1
|
1
|
|
Maternalfetal Medicine, Genetics and Reproduction, University Hospital Virgen del Rocio/CIBERER
|
0 |
0 |
1
|
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.