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 |
28
|
20
|
189
|
8
|
48
|
292
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Clinical Services Laboratory,Illumina
|
0 |
0 |
183
|
8
|
48
|
239
|
OMIM
|
21
|
0 |
0 |
0 |
0 |
21
|
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
|
3
|
3
|
0 |
0 |
0 |
6
|
Mendelics
|
1
|
0 |
1
|
0 |
3
|
5
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
5
|
0 |
0 |
0 |
5
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
2
|
0 |
0 |
0 |
3
|
Baylor Genetics
|
1
|
0 |
1
|
0 |
0 |
2
|
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute
|
0 |
2
|
0 |
0 |
0 |
2
|
Fulgent Genetics,Fulgent Genetics
|
0 |
0 |
2
|
0 |
0 |
2
|
Institute of Human Genetics,Klinikum rechts der Isar
|
0 |
2
|
0 |
0 |
0 |
2
|
Center of Genomic medicine, Geneva,University Hospital of Geneva
|
1
|
1
|
0 |
0 |
0 |
2
|
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues
|
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
0 |
0 |
2
|
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill
|
0 |
1
|
0 |
0 |
0 |
1
|
Johns Hopkins Genomics,Johns Hopkins University
|
0 |
1
|
0 |
0 |
0 |
1
|
Reproductive Health Research and Development,BGI Genomics
|
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.