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 |
22
|
20
|
7
|
0 |
0 |
48
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
total |
NFIX
|
22
|
20
|
7
|
48
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
total |
OMIM
|
3
|
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
2
|
0 |
3
|
3billion
|
0 |
3
|
0 |
3
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
2
|
0 |
1
|
3
|
Baylor Genetics
|
1
|
0 |
1
|
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
2
|
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
1
|
0 |
2
|
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital
|
1
|
1
|
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
1
|
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
0 |
2
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
1
|
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology
|
1
|
0 |
0 |
1
|
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University
|
1
|
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
0 |
1
|
Department of Medical Genetics, Oslo University Hospital
|
0 |
1
|
0 |
1
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
1
|
0 |
0 |
1
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
0 |
0 |
1
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
1
|
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
1
|
1
|
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre
|
1
|
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
1
|
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris
|
1
|
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
1
|
Laboratory of Medical Genetics, University of Torino
|
0 |
1
|
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
1
|
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
1
|
Medical Genetics UTHealth at Houston, UTHealth at Houston
|
1
|
0 |
0 |
1
|
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital
|
0 |
1
|
0 |
1
|
MVZ Medizinische Genetik Mainz
|
1
|
0 |
0 |
1
|
DECIPHERD-UDD, Universidad del Desarrollo
|
0 |
1
|
0 |
1
|
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