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
|
30
|
528
|
637
|
213
|
54
|
1443
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
MED12
|
16
|
24
|
448
|
532
|
171
|
52
|
1202
|
UPF3B
|
10
|
5
|
51
|
66
|
35
|
0 |
164
|
LOC126863275, MED12
|
0 |
1
|
26
|
39
|
7
|
2
|
74
|
AKAP14, ATP1B4, C1GALT1C1, CUL4B, LAMP2, MCTS1, NDUFA1, NKAP, NKRF, RHOXF1, RHOXF2, RHOXF2B, RNF113A, RPL39, SEPTIN6, SOWAHD, TMEM255A, UBE2A, UPF3B, ZBTB33
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CXorf65, FOXO4, GJB1, IL2RG, ITGB1BP2, MED12, NLGN3, NONO, SLC7A3, SNX12, TAF1, TEX11, ZMYM3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GJB1, MED12, NLGN3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
9
|
6
|
490
|
631
|
207
|
0 |
1343
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
51
|
51
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
7
|
7
|
1
|
0 |
16
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
4
|
5
|
0 |
0 |
0 |
9
|
Baylor Genetics
|
2
|
1
|
4
|
0 |
0 |
0 |
7
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
3billion
|
1
|
3
|
3
|
0 |
0 |
0 |
7
|
Revvity Omics, Revvity Omics
|
2
|
2
|
2
|
0 |
0 |
0 |
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
3
|
1
|
0 |
0 |
6
|
Mendelics
|
0 |
2
|
0 |
1
|
1
|
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
2
|
0 |
0 |
4
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Molecular Genetics Lab, CHRU Brest
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Oslo University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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