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 |
12
|
12
|
36
|
4
|
7
|
1
|
71
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
MTOR
|
12
|
12
|
36
|
4
|
7
|
1
|
71
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Revvity Omics, Revvity
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
5
|
2
|
0 |
0 |
8
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
Baylor Genetics
|
2
|
0 |
4
|
0 |
0 |
0 |
6
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
3
|
0 |
2
|
0 |
0 |
0 |
5
|
New York Genome Center
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
3billion
|
0 |
3
|
1
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, University of Torino
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Eurofins-Biomnis
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory Cellgenetics, GMDL Cellgenetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Prenatal Diagnosis Center, Inner Mongolia Medical University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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