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 |
42
|
12
|
40
|
4
|
0 |
3
|
98
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
not provided |
total |
NEXMIF
|
42
|
12
|
40
|
4
|
3
|
98
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
not provided |
total |
Baylor Genetics
|
5
|
1
|
9
|
0 |
0 |
15
|
Revvity Omics, Revvity Omics
|
3
|
0 |
10
|
0 |
0 |
13
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
8
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
4
|
0 |
1
|
0 |
8
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
4
|
1
|
0 |
6
|
New York Genome Center
|
0 |
0 |
5
|
1
|
0 |
6
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
1
|
0 |
4
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
4
|
0 |
0 |
0 |
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
3
|
0 |
0 |
4
|
Mendelics
|
2
|
1
|
0 |
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
2
|
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
1
|
0 |
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
2
|
0 |
0 |
0 |
2
|
Invitae
|
1
|
0 |
1
|
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
2
|
3billion
|
2
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
1
|
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
1
|
Genetics Division, Universidade Federal de Sao Paulo
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
1
|
1
|
Pediatric Genetics Clinic, Sheba Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
1
|
1
|
Laboratory of genome editing, Research Centre for Medical Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.