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
|
11
|
4
|
0 |
0 |
19
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
total |
|
H3-3B
|
7
|
11
|
4
|
19
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
total |
|
OMIM
|
5
|
0 |
0 |
5
|
|
3billion
|
0 |
2
|
1
|
3
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
1
|
3
|
|
Illumina Laboratory Services, Illumina
|
0 |
2
|
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
2
|
|
Baylor Genetics
|
0 |
1
|
0 |
1
|
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
1
|
|
Laboratoire de Génétique Moléculaire, CHU Bordeaux
|
0 |
1
|
0 |
1
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
1
|
|
Laboratory of Medical Genetics, University of Torino
|
1
|
0 |
0 |
1
|
|
MVZ Martinsried, Medicover Genetics
|
0 |
1
|
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
1
|
|
Molecular Genetics Laboratory, Motol Hospital
|
0 |
1
|
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
1
|
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