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 |
124
|
137
|
649
|
714
|
169
|
12
|
1699
|
Gene and significance breakdown #
Total genes and gene combinations: 12
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
GRIN2A
|
122
|
135
|
643
|
714
|
169
|
10
|
1688
|
SCN2A
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
ABAT, ATF7IP2, CARHSP1, CIITA, CLEC16A, DEXI, EMP2, GRIN2A, HAPSTR1, LITAF, NUBP1, PMM2, PRM1, PRM2, PRM3, RMI2, SOCS1, TEKT5, TMEM186, TNP2, TVP23A, USP7
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, USP7
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DEPDC5
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GRIN2A, LOC130058418
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GRIN2B
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ITSN2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KCNQ2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NEXMIF
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SPTAN1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TUBA1A
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
98
|
25
|
412
|
700
|
62
|
0 |
1297
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
155
|
11
|
124
|
0 |
290
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
88
|
9
|
1
|
0 |
0 |
100
|
Revvity Omics, Revvity
|
0 |
1
|
25
|
0 |
0 |
0 |
26
|
Mendelics
|
2
|
4
|
3
|
7
|
1
|
0 |
17
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
9
|
3
|
4
|
0 |
0 |
0 |
16
|
Baylor Genetics
|
2
|
0 |
13
|
0 |
0 |
0 |
15
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
11
|
3
|
0 |
0 |
14
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
0 |
12
|
New York Genome Center
|
0 |
2
|
9
|
0 |
0 |
0 |
11
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
3billion
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
MGZ Medical Genetics Center
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Neurogenetics Laboratory - MEYER, AOU Meyer
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Fondazione Telethon, Telethon Institute of Genetics and Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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 of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Gene Discovery Core-Manton Center, Boston Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
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
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Wangler Lab, Baylor College of Medicine
|
0 |
0 |
1
|
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
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Ambulatório de Genética Médica, Hospital Escola da Universidade Federal de Pelotas
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Cavalleri Lab, Royal College of Surgeons in Ireland
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Developmental Neurology, Medical University of Gdańsk
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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