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 |
75
|
80
|
14
|
1
|
18
|
179
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
ALPL
|
75
|
80
|
14
|
1
|
18
|
179
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Baylor Genetics
|
66
|
69
|
1
|
0 |
0 |
136
|
Genome-Nilou Lab
|
0 |
0 |
1
|
1
|
18
|
20
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
3
|
3
|
0 |
0 |
8
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
4
|
1
|
0 |
0 |
6
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
4
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
2
|
0 |
0 |
4
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
3
|
0 |
0 |
0 |
0 |
3
|
Undiagnosed Diseases Network, NIH
|
2
|
0 |
1
|
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
2
|
Mendelics
|
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
0 |
2
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
1
|
0 |
0 |
0 |
2
|
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute
|
0 |
1
|
1
|
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
1
|
Pediatric Metabolic Diseases, Hacettepe University
|
0 |
0 |
1
|
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
1
|
NxGen MDx
|
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
1
|
0 |
0 |
0 |
0 |
1
|
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