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
|
5
|
13
|
4
|
0 |
28
|
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
|
APP
|
4
|
5
|
12
|
4
|
25
|
|
ADAMTS1, ADAMTS5, APP, ATP5PF, BTG3, C21orf91, CHODL, CXADR, CYYR1, GABPA, HSPA13, JAM2, LIPI, MIR125B2, MIR155, MIR99A, MIRLET7C, MRPL39, NCAM2, NRIP1, POTED, RBM11, SAMSN1, TMPRSS15, USP25
|
1
|
0 |
0 |
0 |
1
|
|
CFHR1
|
0 |
0 |
1
|
0 |
1
|
|
SPG11
|
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
5
|
4
|
10
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
1
|
1
|
0 |
3
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
1
|
0 |
0 |
3
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
2
|
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
1
|
0 |
2
|
|
Alzheimer's disease and other cognitive disorders unit, Hospital Clínic de Barcelona_IDIBAPS
|
1
|
0 |
0 |
0 |
1
|
|
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen
|
0 |
1
|
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
1
|
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
1
|
|
OMIM
|
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. The submitted information has not been verified.
If you have questions about the information contained on this
website, please see a health care professional.