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 |
|
7
|
7
|
8
|
0 |
0 |
20
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
total |
|
WFS1
|
7
|
7
|
8
|
20
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
total |
|
OMIM
|
5
|
0 |
0 |
5
|
|
MGZ Medical Genetics Center
|
0 |
1
|
2
|
3
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
2
|
|
Baylor Genetics
|
0 |
0 |
1
|
1
|
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
0 |
1
|
0 |
1
|
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
1
|
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
0 |
1
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
1
|
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
1
|
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
1
|
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
1
|
0 |
1
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
1
|
|
New York Genome Center
|
0 |
0 |
1
|
1
|
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
0 |
1
|
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
1
|
|
Pediatrics, Sichuan Provincial Hospital For Women And Children
|
0 |
1
|
0 |
1
|
|
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences
|
0 |
1
|
0 |
1
|
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