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 |
|
42
|
95
|
100
|
19
|
25
|
5
|
234
|
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
GBE1
|
39
|
95
|
100
|
19
|
25
|
5
|
231
|
|
intergenic
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
GAA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Baylor Genetics
|
25
|
71
|
4
|
0 |
0 |
0 |
100
|
|
Natera, Inc.
|
7
|
5
|
35
|
12
|
14
|
0 |
73
|
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
43
|
6
|
18
|
0 |
68
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
5
|
16
|
20
|
0 |
0 |
0 |
41
|
|
GeneReviews
|
12
|
0 |
0 |
0 |
0 |
3
|
15
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
10
|
0 |
0 |
0 |
0 |
14
|
|
Genome-Nilou Lab
|
0 |
2
|
7
|
2
|
3
|
0 |
14
|
|
Counsyl
|
2
|
2
|
4
|
1
|
0 |
0 |
9
|
|
Pars Genome Lab
|
0 |
0 |
0 |
2
|
4
|
0 |
6
|
|
MGZ Medical Genetics Center
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
|
Mendelics
|
2
|
1
|
0 |
0 |
1
|
0 |
4
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
2
|
0 |
3
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Jacobi Internal Medicine Residency Program, Jacobi Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Myriad Genetics, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Solve-RD Consortium
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
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