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 |
3
|
4
|
4
|
0 |
0 |
1
|
11
|
Gene and significance breakdown #
Total genes and gene combinations: 9
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
not provided |
total |
OMIM
|
2
|
0 |
0 |
0 |
2
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
1
|
1
|
0 |
2
|
Dept. of Medical Genetics, The Key Laboratory of Geriatrics, Beijing Institute of Geriatrics, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology of National Health Commission
|
0 |
2
|
0 |
0 |
2
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
1
|
Database of Curated Mutations (DoCM)
|
0 |
0 |
0 |
1
|
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
1
|
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals
|
0 |
1
|
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
1
|
University Health Network, Princess Margaret Cancer Centre
|
1
|
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.