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 |
145
|
179
|
390
|
1044
|
92
|
2
|
1720
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
CPS1
|
145
|
179
|
390
|
1044
|
92
|
2
|
1720
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
125
|
51
|
216
|
1020
|
71
|
0 |
1483
|
Natera, Inc.
|
4
|
8
|
75
|
21
|
27
|
0 |
135
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
87
|
13
|
28
|
0 |
128
|
Counsyl
|
2
|
35
|
42
|
3
|
0 |
0 |
82
|
Myriad Genetics, Inc.
|
0 |
64
|
2
|
0 |
0 |
0 |
66
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
12
|
18
|
0 |
0 |
0 |
0 |
30
|
Revvity Omics, Revvity
|
1
|
8
|
11
|
0 |
0 |
0 |
20
|
Genome-Nilou Lab
|
0 |
0 |
5
|
0 |
15
|
0 |
20
|
Mendelics
|
6
|
3
|
2
|
1
|
1
|
0 |
13
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
Laboratory of Metabolic Disorders, Peking University First Hospital
|
4
|
3
|
4
|
0 |
0 |
0 |
11
|
Baylor Genetics
|
0 |
1
|
9
|
0 |
0 |
0 |
10
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
9
|
0 |
10
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
3
|
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
3billion
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
SingHealth Duke-NUS Institute of Precision Medicine
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Elsea Laboratory, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
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.