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 |
199
|
233
|
168
|
418
|
44
|
1
|
916
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
159
|
72
|
81
|
396
|
40
|
0 |
748
|
Baylor Genetics
|
65
|
58
|
4
|
0 |
0 |
0 |
127
|
Counsyl
|
6
|
62
|
32
|
2
|
0 |
0 |
102
|
Natera, Inc.
|
28
|
4
|
14
|
26
|
20
|
0 |
92
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
46
|
9
|
13
|
0 |
69
|
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital
|
13
|
27
|
1
|
0 |
0 |
0 |
41
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
18
|
16
|
0 |
0 |
0 |
0 |
34
|
Fulgent Genetics, Fulgent Genetics
|
9
|
5
|
10
|
1
|
1
|
0 |
26
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
15
|
3
|
0 |
0 |
0 |
0 |
18
|
Myriad Genetics, Inc.
|
4
|
8
|
4
|
0 |
0 |
0 |
16
|
Genome-Nilou Lab
|
0 |
2
|
5
|
1
|
6
|
0 |
14
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
8
|
4
|
0 |
0 |
0 |
0 |
12
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Laboratory of Metabolic Disorders, Peking University First Hospital
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
2
|
3
|
0 |
0 |
0 |
6
|
Centogene AG - the Rare Disease Company
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
4
|
1
|
0 |
0 |
0 |
5
|
3billion
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Mendelics
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Manipal Hospitals, Manipal Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics Laboratory, University of Sistan and Baluchestan
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
0 |
0 |
1
|
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. 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.