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 |
26
|
17
|
116
|
82
|
5
|
1
|
233
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
RIT1
|
26
|
17
|
114
|
82
|
5
|
1
|
231
|
ARHGEF2, KHDC4, LAMTOR2, LMNA, MEX3A, RAB25, RIT1, RXFP4, SSR2, UBQLN4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DAP3, GON4L, MSTO1, RIT1, SYT11, YY1AP1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
24
|
4
|
113
|
81
|
2
|
0 |
224
|
Genome-Nilou Lab
|
14
|
9
|
29
|
21
|
5
|
0 |
78
|
Fulgent Genetics, Fulgent Genetics
|
5
|
1
|
4
|
0 |
0 |
0 |
10
|
Revvity Omics, Revvity Omics
|
5
|
1
|
2
|
0 |
0 |
0 |
8
|
3billion
|
6
|
0 |
1
|
0 |
0 |
0 |
7
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
0 |
0 |
0 |
1
|
0 |
3
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
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 |
0 |
1
|
MVZ Praenatalmedizin und Genetik Nuernberg
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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