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 |
4
|
11
|
40
|
4
|
2
|
1
|
62
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Revvity Omics, Revvity
|
0 |
1
|
10
|
1
|
0 |
0 |
12
|
New York Genome Center
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
Baylor Genetics
|
0 |
2
|
6
|
0 |
0 |
0 |
8
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
MVZ Medizinische Genetik Mainz
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
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.