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 |
12
|
6
|
4
|
0 |
3
|
22
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
KLHL7
|
12
|
6
|
4
|
3
|
22
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
OMIM
|
8
|
0 |
0 |
0 |
8
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
3
|
1
|
0 |
0 |
4
|
Mendelics
|
0 |
0 |
0 |
3
|
3
|
Institute of Human Genetics, University of Goettingen
|
0 |
2
|
0 |
0 |
2
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
1
|
0 |
2
|
Istanbul Faculty of Medicine, Istanbul University
|
2
|
0 |
0 |
0 |
2
|
Centre for Human Genetics, University of Kinshasa
|
0 |
1
|
1
|
0 |
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
1
|
0 |
1
|
Pediatric Genomics Discovery Program, Yale University
|
0 |
1
|
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
1
|
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
0 |
0 |
1
|
Department of Molecular Genetics, Genome Genetics Laboratory
|
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.