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 |
71
|
74
|
549
|
491
|
145
|
6
|
1190
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Familial hemiplegic migraine
|
44
|
23
|
367
|
390
|
45
|
5
|
872
|
not provided
|
21
|
29
|
157
|
76
|
64
|
0 |
329
|
Migraine, familial hemiplegic, 2
|
16
|
6
|
74
|
16
|
86
|
0 |
185
|
Alternating hemiplegia of childhood 1
|
3
|
3
|
57
|
8
|
94
|
0 |
162
|
not specified
|
0 |
0 |
12
|
68
|
40
|
0 |
112
|
Inborn genetic diseases
|
3
|
3
|
40
|
42
|
13
|
0 |
101
|
Developmental and epileptic encephalopathy 98
|
4
|
4
|
2
|
0 |
64
|
0 |
73
|
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
|
6
|
3
|
0 |
0 |
64
|
0 |
73
|
ATP1A2-related condition
|
2
|
3
|
9
|
17
|
2
|
0 |
33
|
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2
|
1
|
1
|
11
|
0 |
0 |
2
|
14
|
Alternating hemiplegia of childhood
|
0 |
0 |
6
|
0 |
2
|
0 |
8
|
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Developmental and epileptic encephalopathy 98
|
1
|
0 |
3
|
3
|
0 |
0 |
7
|
Epilepsy; Abnormality of neuronal migration; Arthrogryposis multiplex congenita; Hydrops fetalis
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Polymicrogyria
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
See cases
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Seizures, benign familial infantile, 3
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
ATP1A2-RELATED DISORDERS
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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
|
Hemiplegia
|
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 |
Invitae
|
44
|
23
|
361
|
392
|
44
|
0 |
864
|
GeneDx
|
14
|
12
|
115
|
112
|
90
|
0 |
343
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
70
|
22
|
61
|
0 |
131
|
Ambry Genetics
|
3
|
3
|
40
|
42
|
13
|
0 |
101
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
64
|
0 |
64
|
CeGaT Center for Human Genetics Tuebingen
|
5
|
12
|
10
|
17
|
1
|
0 |
45
|
Athena Diagnostics Inc
|
4
|
3
|
20
|
1
|
14
|
0 |
42
|
PreventionGenetics, part of Exact Sciences
|
2
|
3
|
9
|
17
|
10
|
0 |
41
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
19
|
2
|
7
|
0 |
28
|
OMIM
|
22
|
0 |
0 |
0 |
0 |
0 |
22
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
12
|
3
|
0 |
0 |
16
|
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
|
2
|
5
|
3
|
0 |
0 |
0 |
10
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
4
|
2
|
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
|
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
|
Baylor Genetics
|
2
|
2
|
1
|
0 |
0 |
0 |
4
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
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
|
MGZ Medical Genetics Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
New York Genome Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
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
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Cell and Molecular Biology Laboratory, University of the Punjab Lahore
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
3billion
|
0 |
1
|
1
|
0 |
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
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
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
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
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
|
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
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Neurology, Xijing Hospital, Fourth Military Medical University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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