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 |
|
17
|
24
|
16
|
2
|
4
|
61
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Fulgent Genetics, Fulgent Genetics
|
5
|
16
|
4
|
0 |
0 |
25
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
10
|
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
2
|
2
|
2
|
0 |
0 |
6
|
|
3billion
|
2
|
0 |
2
|
0 |
0 |
4
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
2
|
0 |
2
|
0 |
0 |
4
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
2
|
1
|
3
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
0 |
2
|
0 |
0 |
3
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
|
Revvity Omics, Revvity
|
0 |
1
|
2
|
0 |
0 |
3
|
|
Variantyx, Inc.
|
2
|
1
|
0 |
0 |
0 |
3
|
|
Medical and Scientific Branch, Hong Kong Genome Institute
|
1
|
1
|
0 |
0 |
0 |
2
|
|
SingHealth Duke-NUS Institute of Precision Medicine
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
DBGen Ocular Genomics
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Dasa
|
1
|
0 |
0 |
0 |
0 |
1
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Servicio Extremeño de Salud, Hospital de Mérida
|
1
|
0 |
0 |
0 |
0 |
1
|
|
UCLA Clinical Genomics Center, UCLA
|
1
|
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. The submitted information has not been verified.
If you have questions about the information contained on this
website, please see a health care professional.