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 |
11
|
8
|
13
|
6
|
3
|
41
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
DGKE
|
11
|
8
|
13
|
6
|
3
|
41
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Fulgent Genetics, Fulgent Genetics
|
5
|
2
|
3
|
5
|
1
|
16
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
4
|
3
|
0 |
0 |
0 |
7
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
4
|
0 |
0 |
5
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
3
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
3
|
0 |
0 |
3
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
2
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
2
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
0 |
0 |
0 |
1
|
GenePathDx, GenePath diagnostics
|
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
1
|
Center for Precision Medicine, Vanderbilt University Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
1
|
3billion, Medical Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
0 |
1
|
0 |
1
|
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