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 |
79
|
89
|
638
|
533
|
147
|
6
|
1325
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Familial hemiplegic migraine
|
49
|
24
|
411
|
435
|
45
|
5
|
966
|
not provided
|
23
|
35
|
215
|
86
|
82
|
0 |
421
|
Migraine, familial hemiplegic, 2
|
19
|
10
|
78
|
16
|
86
|
0 |
196
|
Alternating hemiplegia of childhood 1
|
4
|
4
|
57
|
8
|
94
|
0 |
164
|
not specified
|
0 |
0 |
17
|
71
|
54
|
0 |
131
|
Inborn genetic diseases
|
4
|
5
|
54
|
44
|
13
|
0 |
120
|
Developmental and epileptic encephalopathy 98
|
6
|
5
|
8
|
0 |
64
|
0 |
82
|
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
|
7
|
7
|
0 |
1
|
64
|
0 |
76
|
ATP1A2-related disorder
|
4
|
4
|
17
|
21
|
2
|
0 |
48
|
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2
|
1
|
1
|
11
|
0 |
0 |
2
|
14
|
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Developmental and epileptic encephalopathy 98
|
2
|
2
|
4
|
3
|
0 |
0 |
11
|
Alternating hemiplegia of childhood
|
0 |
0 |
6
|
0 |
2
|
0 |
8
|
See cases
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Polymicrogyria
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Seizures, benign familial infantile, 3
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
ATP1A2-associated neurological disorder
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Epilepsy
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Epileptic encephalopathy
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Hemiparesis; Headache; Dysphasia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Migraine, familial basilar
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Migraine, familial hemiplegic, 2; Alternating hemiplegia of childhood
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Seizure
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Spastic ataxia
|
1
|
0 |
0 |
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
|
49
|
24
|
404
|
437
|
44
|
0 |
958
|
GeneDx
|
16
|
18
|
165
|
111
|
90
|
0 |
400
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
70
|
22
|
61
|
0 |
131
|
Ambry Genetics
|
4
|
5
|
54
|
44
|
13
|
0 |
120
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
4
|
15
|
48
|
0 |
67
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
64
|
0 |
64
|
CeGaT Center for Human Genetics Tuebingen
|
6
|
13
|
16
|
22
|
1
|
0 |
58
|
PreventionGenetics, part of Exact Sciences
|
2
|
4
|
17
|
21
|
10
|
0 |
54
|
Athena Diagnostics
|
4
|
3
|
22
|
1
|
17
|
0 |
47
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
19
|
2
|
7
|
0 |
28
|
OMIM
|
22
|
0 |
0 |
0 |
0 |
0 |
22
|
Fulgent Genetics, Fulgent Genetics
|
3
|
1
|
12
|
3
|
0 |
0 |
19
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
18
|
0 |
18
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
10
|
5
|
0 |
0 |
17
|
Revvity Omics, Revvity
|
0 |
2
|
11
|
0 |
0 |
0 |
13
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
2
|
9
|
0 |
0 |
12
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
5
|
3
|
0 |
0 |
0 |
11
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
9
|
0 |
0 |
0 |
9
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
3
|
3
|
0 |
0 |
0 |
7
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
2
|
0 |
4
|
0 |
7
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
1
|
3
|
2
|
0 |
6
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
3
|
3
|
0 |
0 |
6
|
Baylor Genetics
|
2
|
2
|
2
|
0 |
0 |
0 |
5
|
Mendelics
|
1
|
2
|
1
|
1
|
0 |
0 |
5
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
1
|
0 |
1
|
2
|
1
|
0 |
5
|
3billion
|
1
|
0 |
3
|
1
|
0 |
0 |
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
2
|
1
|
0 |
1
|
0 |
0 |
4
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
New York Genome Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Cell and Molecular Biology Laboratory, University of the Punjab Lahore
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
GenomeConnect - Brain Gene Registry
|
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 Biochemistry, Hamamatsu University School Of Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
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
|
Neurogenetics Laboratory - MEYER, AOU Meyer
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
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 of Human Genetics, Heidelberg University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Neurology, Xijing Hospital, Fourth Military Medical University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Solve-RD Consortium
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dr.Nikuei Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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