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 |
|
38
|
29
|
219
|
92
|
107
|
1
|
441
|
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 |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
152
|
21
|
52
|
0 |
225
|
|
Natera, Inc.
|
11
|
5
|
55
|
57
|
58
|
0 |
186
|
|
Genome-Nilou Lab
|
0 |
0 |
3
|
2
|
33
|
0 |
38
|
|
Fulgent Genetics, Fulgent Genetics
|
4
|
5
|
7
|
7
|
2
|
0 |
25
|
|
Revvity Omics, Revvity
|
3
|
8
|
6
|
0 |
0 |
0 |
17
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
14
|
2
|
0 |
17
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
5
|
1
|
0 |
0 |
0 |
8
|
|
Baylor Genetics
|
1
|
1
|
5
|
0 |
0 |
0 |
7
|
|
Counsyl
|
0 |
0 |
3
|
2
|
0 |
0 |
5
|
|
Department of Genetics and Molecular Medicine, Faculty of Medicine, Zanjan University of Medical Sciences
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Functional Genomic Platform, Centre National pour la Recherche Scientifique et Technique
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
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.