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 |
141
|
86
|
632
|
474
|
156
|
46
|
1464
|
Gene and significance breakdown #
Total genes and gene combinations: 32
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
ATP1A2
|
56
|
32
|
439
|
398
|
100
|
6
|
988
|
CACNA1A
|
27
|
26
|
50
|
14
|
24
|
31
|
155
|
LOC102724058, SCN1A
|
17
|
4
|
58
|
13
|
16
|
5
|
107
|
SCN1A
|
24
|
11
|
31
|
14
|
8
|
3
|
90
|
ATP1A2, LOC126805890
|
6
|
3
|
37
|
30
|
5
|
0 |
79
|
CACNA1A, LOC108663985
|
0 |
0 |
0 |
2
|
3
|
0 |
5
|
CACNA1A, LOC126862865
|
0 |
1
|
2
|
2
|
0 |
0 |
5
|
NOTCH3
|
1
|
4
|
0 |
0 |
0 |
0 |
5
|
CACNA1A, LOC126862864
|
2
|
1
|
1
|
0 |
0 |
1
|
3
|
CACNA1A, LOC126862866
|
0 |
1
|
1
|
1
|
0 |
0 |
3
|
CAPN3
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
MYH6
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
intergenic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AHNAK2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ATP1A2, ATP1A4, CASQ1, COPA, DCAF8, DCAF8-DT, NCSTN, PEA15, PEX19
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ATP1A2, IGSF8, KCNJ10, KCNJ9
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
BRCA2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CACNA1A, LOC108663985, LOC129391066, LOC130063715, LOC130063716, LOC130063717, LOC130063718
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CLCN1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DGUOK
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DGUOK, LOC129934096
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DSP
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
EMD, FLNA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FLNA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC126859827, TAB2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MAP2K2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MT-ND1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PPOX
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SCN5A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SLC2A1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
STIM1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
WDR45
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
48
|
26
|
396
|
420
|
47
|
0 |
937
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
133
|
39
|
68
|
0 |
240
|
Fulgent Genetics, Fulgent Genetics
|
16
|
3
|
54
|
23
|
4
|
0 |
100
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
88
|
0 |
88
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
13
|
13
|
21
|
2
|
0 |
0 |
49
|
Wendy Chung Laboratory, Columbia University Medical Center
|
13
|
20
|
0 |
0 |
0 |
0 |
33
|
OMIM
|
29
|
0 |
0 |
0 |
0 |
0 |
29
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
0 |
19
|
19
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
16
|
16
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
14
|
14
|
Institute of Human Genetics, University of Leipzig Medical Center
|
4
|
2
|
8
|
0 |
0 |
0 |
14
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
3
|
1
|
9
|
1
|
0 |
0 |
14
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
11
|
2
|
0 |
0 |
0 |
0 |
13
|
Baylor Genetics
|
1
|
3
|
5
|
0 |
0 |
0 |
9
|
Athena Diagnostics
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
New York Genome Center
|
0 |
0 |
8
|
0 |
0 |
0 |
8
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
2
|
3
|
0 |
0 |
0 |
5
|
MGZ Medical Genetics Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Molecular Genetics Lab, CHRU Brest
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
DASA
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Pediatrics, MediClubGeorgia
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Immunology and Genetics Kaiserslautern
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
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
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
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
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Suma Genomics, Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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