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 |
4
|
7
|
10
|
0 |
4
|
25
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
PAX2
|
4
|
7
|
10
|
4
|
25
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
3billion
|
1
|
2
|
2
|
0 |
5
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
0 |
4
|
0 |
4
|
Genome-Nilou Lab
|
0 |
0 |
0 |
4
|
4
|
OMIM
|
2
|
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
1
|
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
0 |
2
|
Broad Institute Rare Disease Group, Broad Institute
|
1
|
1
|
0 |
0 |
2
|
Precision Medicine Center, Zhengzhou University
|
1
|
1
|
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
1
|
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