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 |
49
|
37
|
535
|
591
|
184
|
55
|
1418
|
Gene and significance breakdown #
Total genes and gene combinations: 9
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
MED12
|
9
|
14
|
434
|
530
|
171
|
52
|
1183
|
LOC126863275, MED12
|
0 |
1
|
25
|
39
|
7
|
2
|
73
|
FLNA
|
1
|
1
|
38
|
18
|
3
|
1
|
62
|
FGD1
|
22
|
9
|
19
|
3
|
1
|
0 |
52
|
CASK
|
16
|
8
|
8
|
1
|
0 |
0 |
31
|
FGD1, TSR2
|
1
|
4
|
6
|
0 |
1
|
0 |
11
|
FLNA, LOC107988032
|
0 |
0 |
3
|
0 |
1
|
0 |
4
|
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
|
7
|
6
|
443
|
566
|
173
|
0 |
1195
|
Fulgent Genetics, Fulgent Genetics
|
3
|
0 |
28
|
21
|
5
|
0 |
57
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
51
|
51
|
OMIM
|
23
|
0 |
0 |
0 |
0 |
0 |
23
|
Baylor Genetics
|
3
|
2
|
6
|
0 |
0 |
0 |
11
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
8
|
3
|
0 |
0 |
11
|
3billion
|
4
|
2
|
3
|
0 |
0 |
0 |
9
|
Revvity Omics, Revvity
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
Mendelics
|
3
|
1
|
2
|
1
|
1
|
0 |
8
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
1
|
3
|
3
|
0 |
0 |
0 |
7
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
2
|
4
|
0 |
0 |
0 |
7
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
1
|
0 |
2
|
0 |
0 |
3
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
1
|
0 |
1
|
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Molecular Genetics Lab, CHRU Brest
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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
|
Keegan Laboratory, University of Michigan
|
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
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
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, University of Torino
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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