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 |
10
|
4
|
47
|
0 |
4
|
1
|
60
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
Inherited Neuropathy Consortium
|
0 |
0 |
34
|
0 |
0 |
34
|
Baylor Genetics
|
0 |
0 |
7
|
0 |
0 |
7
|
Genome-Nilou Lab
|
0 |
0 |
0 |
4
|
0 |
4
|
3billion
|
1
|
3
|
0 |
0 |
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
3
|
0 |
0 |
3
|
Mendelics
|
2
|
0 |
0 |
0 |
0 |
2
|
GeneReviews
|
1
|
0 |
0 |
0 |
1
|
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
2
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
0 |
0 |
2
|
0 |
0 |
2
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
1
|
0 |
0 |
0 |
0 |
1
|
Northcott Neuroscience Laboratory, ANZAC Research Institute
|
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Translational Omics - GOSgene, University College London
|
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
Pangenia Genomics, Pangenia Inc.
|
0 |
0 |
1
|
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.