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 |
not provided |
total |
18
|
10
|
6
|
0 |
5
|
3
|
39
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
PAX2
|
18
|
10
|
6
|
5
|
3
|
39
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
OMIM
|
10
|
0 |
0 |
0 |
0 |
10
|
3billion
|
3
|
2
|
2
|
0 |
0 |
7
|
Molecular Biology Laboratory, Fundació Puigvert
|
5
|
1
|
0 |
0 |
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
4
|
0 |
4
|
GeneReviews
|
0 |
0 |
0 |
0 |
3
|
3
|
Precision Medicine Center, Zhengzhou University
|
0 |
3
|
0 |
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
2
|
1
|
0 |
0 |
3
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
2
|
0 |
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
1
|
0 |
0 |
2
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
1
|
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
1
|
Razi Pathobiology & Medical Genetics
|
0 |
0 |
0 |
1
|
0 |
1
|
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