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 |
21
|
26
|
621
|
603
|
113
|
4
|
1264
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Generalized epilepsy-paroxysmal dyskinesia syndrome
|
12
|
10
|
484
|
509
|
38
|
0 |
1014
|
not provided
|
5
|
8
|
167
|
126
|
80
|
0 |
364
|
KCNMA1-related condition
|
0 |
2
|
12
|
37
|
6
|
0 |
57
|
not specified
|
0 |
0 |
13
|
18
|
15
|
0 |
40
|
Inborn genetic diseases
|
0 |
0 |
32
|
3
|
0 |
0 |
35
|
Liang-Wang syndrome
|
4
|
3
|
5
|
0 |
1
|
0 |
12
|
Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16; Liang-Wang syndrome
|
0 |
0 |
7
|
3
|
0 |
1
|
11
|
Cerebellar atrophy, developmental delay, and seizures
|
2
|
1
|
3
|
0 |
1
|
0 |
7
|
Epilepsy, idiopathic generalized, susceptibility to, 16
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Intellectual disability
|
0 |
1
|
1
|
2
|
0 |
0 |
4
|
See cases
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Autism spectrum disorder
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures
|
0 |
0 |
2
|
0 |
0 |
1
|
3
|
Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Liang-Wang syndrome
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Generalized epilepsy-paroxysmal dyskinesia syndrome; Epilepsy, idiopathic generalized, susceptibility to, 16
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Generalized epilepsy-paroxysmal dyskinesia syndrome; Epilepsy, idiopathic generalized, susceptibility to, 16; Liang-Wang syndrome
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Generalized epilepsy-paroxysmal dyskinesia syndrome; Infantile epileptic dyskinetic encephalopathy
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Global developmental delay; Hypotonia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KCNMA1-related disorders
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Seizure
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Seizure; Intellectual disability
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Spastic ataxia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
9
|
7
|
398
|
492
|
35
|
0 |
941
|
GeneDx
|
3
|
6
|
95
|
80
|
75
|
0 |
259
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
85
|
25
|
8
|
0 |
118
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
2
|
40
|
38
|
3
|
0 |
85
|
PreventionGenetics, part of Exact Sciences
|
0 |
2
|
12
|
37
|
6
|
0 |
57
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
30
|
7
|
9
|
0 |
46
|
Ambry Genetics
|
0 |
0 |
32
|
3
|
0 |
0 |
35
|
Athena Diagnostics Inc
|
0 |
0 |
4
|
5
|
14
|
0 |
23
|
Revvity Omics, Revvity
|
1
|
0 |
17
|
1
|
0 |
0 |
19
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
4
|
9
|
2
|
0 |
15
|
New York Genome Center
|
0 |
0 |
13
|
0 |
0 |
0 |
13
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
7
|
1
|
0 |
8
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
5
|
2
|
0 |
0 |
7
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
7
|
0 |
0 |
7
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
5
|
1
|
0 |
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
4
|
0 |
0 |
4
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
0 |
2
|
0 |
3
|
3billion
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Mendelics
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Centre of Medical Genetics, University of Antwerp
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Pediatric Genetics Clinic, Sheba Medical Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Strasbourg University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Geschwind lab, University of California Los Angeles
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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