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 |
6
|
2
|
31
|
3
|
5
|
47
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Revvity Omics, Revvity
|
0 |
0 |
10
|
0 |
0 |
10
|
Baylor Genetics
|
1
|
0 |
6
|
0 |
0 |
7
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
5
|
Mendelics
|
0 |
0 |
1
|
2
|
0 |
3
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
2
|
0 |
3
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
0 |
1
|
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd
|
0 |
0 |
1
|
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
1
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
1
|
Biological Sciences, International Islamic University, Islamabad
|
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
1
|
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
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.