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 |
8
|
10
|
3
|
0 |
1
|
20
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
GLDN
|
8
|
10
|
3
|
1
|
20
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
OMIM
|
6
|
0 |
0 |
0 |
6
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
1
|
0 |
0 |
2
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
1
|
1
|
0 |
2
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
2
|
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
1
|
Revvity Omics, Revvity Omics
|
0 |
1
|
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
1
|
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
1
|
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris
|
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
1
|
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
1
|
0 |
1
|
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