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 |
13
|
10
|
84
|
12
|
18
|
3
|
137
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
69
|
11
|
14
|
0 |
94
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
Revvity Omics, Revvity Omics
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
Baylor Genetics
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
2
|
0 |
0 |
5
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
3billion
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Biochemistry, Faculty of Medicine, University of Khartoum
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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