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 |
5
|
11
|
20
|
0 |
0 |
1
|
34
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
not provided |
total |
Revvity Omics, Revvity
|
0 |
0 |
6
|
0 |
6
|
OMIM
|
4
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
3
|
0 |
4
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
3
|
1
|
0 |
4
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
2
|
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
2
|
0 |
0 |
2
|
New York Genome Center
|
0 |
1
|
1
|
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
1
|
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
0 |
1
|
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.