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 |
risk factor |
not provided |
total |
147
|
70
|
1049
|
796
|
123
|
10
|
6
|
2144
|
Gene and significance breakdown #
Total genes and gene combinations: 17
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
CACNA1H
|
0 |
1
|
364
|
247
|
23
|
4
|
5
|
641
|
GABRG2
|
75
|
32
|
249
|
169
|
25
|
0 |
0 |
525
|
GABRA1
|
27
|
15
|
236
|
174
|
42
|
3
|
0 |
475
|
GABRB3
|
37
|
20
|
190
|
199
|
22
|
3
|
1
|
465
|
GABRA6
|
0 |
0 |
3
|
7
|
11
|
0 |
0 |
21
|
GABRB3, LOC126862078
|
2
|
0 |
2
|
0 |
0 |
0 |
0 |
4
|
GABRA1, GABRA6, GABRB2, GABRG2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
GABRA1, GABRG2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
ATP10A, GABRA5, GABRB3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATP10A, GABRA5, GABRB3, GABRG3, OCA2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GABRA1, GABRA6
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GABRA1, GABRA6, GABRG2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GABRA5, GABRB3, GABRG3, HERC2, OCA2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GABRB3, LOC126862077, LOC126862078
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
KCNQ2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC101927358, MIR6130, RORB
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SCN1B
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
135
|
52
|
533
|
531
|
88
|
0 |
0 |
1339
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
328
|
247
|
16
|
0 |
0 |
592
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
139
|
17
|
15
|
0 |
0 |
171
|
Baylor Genetics
|
1
|
2
|
17
|
0 |
0 |
0 |
0 |
20
|
New York Genome Center
|
0 |
0 |
20
|
0 |
0 |
0 |
0 |
20
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
10
|
0 |
16
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
1
|
4
|
0 |
0 |
0 |
0 |
8
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
3
|
3
|
0 |
0 |
0 |
7
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
7
|
0 |
0 |
7
|
Mendelics
|
3
|
1
|
1
|
0 |
1
|
0 |
0 |
6
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
5
|
Uskudar University, Department of Molecular Biology and Genetics, Uskudar University
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
4
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Athena Diagnostics
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
3billion
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neurogenetics group, VIB, Antwerp, Belgium
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
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