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 |
not provided |
total |
|
31
|
21
|
56
|
10
|
17
|
1
|
131
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
CASR
|
31
|
21
|
56
|
10
|
17
|
1
|
131
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
39
|
9
|
11
|
0 |
60
|
|
OMIM
|
21
|
0 |
0 |
0 |
0 |
0 |
21
|
|
Molecular Genetics Laboratory, Biobizkaia Health Research Institute
|
6
|
7
|
1
|
0 |
0 |
0 |
14
|
|
Mendelics
|
2
|
2
|
2
|
1
|
3
|
0 |
10
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
2
|
2
|
0 |
0 |
0 |
5
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
3
|
2
|
0 |
0 |
0 |
5
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
MVZ Dr. Eberhard & Partner Dortmund
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Molecular Diagnostics Lab, Nemours Children's Health, Delaware
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genetics Laboratory, Region Ostergotland
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Wangler Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
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.