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 |
|
25
|
36
|
68
|
7
|
41
|
4
|
174
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
53
|
5
|
24
|
0 |
82
|
|
Medical Affairs, Dicerna Pharmaceuticals
|
12
|
20
|
5
|
0 |
0 |
0 |
37
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
21
|
0 |
21
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
3
|
9
|
2
|
1
|
0 |
15
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
6
|
0 |
0 |
0 |
0 |
6
|
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
MVZ Medizinische Genetik Mainz
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Palindrome, Gene Kavoshgaran Aria
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
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. The submitted information has not been verified.
If you have questions about the information contained on this
website, please see a health care professional.