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 |
|
28
|
37
|
150
|
31
|
34
|
1
|
266
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Fulgent Genetics, Fulgent Genetics
|
7
|
18
|
86
|
2
|
1
|
0 |
114
|
|
Genome-Nilou Lab
|
5
|
2
|
44
|
19
|
30
|
0 |
100
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
1
|
4
|
7
|
18
|
0 |
32
|
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
0 |
16
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
2
|
5
|
4
|
3
|
0 |
14
|
|
Revvity Omics, Revvity
|
4
|
4
|
6
|
0 |
0 |
0 |
14
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
11
|
3
|
0 |
0 |
0 |
0 |
14
|
|
Baylor Genetics
|
3
|
1
|
5
|
0 |
0 |
0 |
9
|
|
3billion
|
2
|
1
|
3
|
0 |
0 |
0 |
6
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
3
|
2
|
0 |
0 |
6
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
3
|
0 |
0 |
0 |
5
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
Mendelics
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
|
Godley laboratory, The University of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
New York Genome Center
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
|
CENTOGENE GmbH and LLC - Guiding Precision Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Care4Rare-SOLVE, CHEO
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Genetic Services Laboratory, University of Chicago
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
DBGen Ocular Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Variantyx, Inc.
|
0 |
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.