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 |
20
|
5
|
167
|
32
|
45
|
268
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
140
|
31
|
39
|
210
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
8
|
2
|
6
|
1
|
0 |
17
|
Genome-Nilou Lab
|
0 |
0 |
5
|
0 |
12
|
17
|
Counsyl
|
2
|
2
|
1
|
0 |
0 |
5
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
0 |
1
|
3
|
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
4
|
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
1
|
0 |
0 |
3
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
1
|
0 |
0 |
3
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
2
|
0 |
0 |
2
|
Phosphorus, Inc.
|
0 |
0 |
2
|
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
2
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
1
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
1
|
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
KTest Genetics, KTest
|
1
|
0 |
0 |
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.