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 |
total |
52
|
15
|
164
|
92
|
29
|
343
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
TBK1
|
52
|
14
|
164
|
92
|
29
|
342
|
KIF5A
|
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
38
|
7
|
154
|
92
|
29
|
320
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
6
|
0 |
0 |
0 |
0 |
6
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
1
|
1
|
0 |
0 |
4
|
MGZ Medical Genetics Center
|
1
|
0 |
2
|
0 |
0 |
3
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
1
|
2
|
0 |
0 |
0 |
3
|
Baylor Genetics
|
0 |
1
|
1
|
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
1
|
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
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.