ClinVar Miner

Variants studied for continuous spikes and waves during sleep

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
61 30 425 178 131 1 793

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GRIN2A 60 30 420 178 131 1 787
ABAT, C16orf72, CARHSP1, GRIN2A, PMM2, TMEM186, USP7 0 0 1 0 0 0 1
GRIN2B 0 0 1 0 0 0 1
ITSN2 0 0 1 0 0 0 1
KCNQ2 0 0 1 0 0 0 1
NEXMIF 1 0 0 0 0 0 1
SPTAN1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 35 10 242 163 17 0 467
Illumina Clinical Services Laboratory,Illumina 0 0 155 11 124 0 290
Génétique des Maladies du Développement, Hospices Civils de Lyon 8 3 4 0 0 0 15
Mendelics 0 3 3 7 1 0 14
OMIM 12 0 0 0 0 0 12
Baylor Genetics 2 0 10 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 2 4 5 1 0 0 12
GeneReviews 5 0 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 0 0 3
New York Genome Center 0 1 2 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 1 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 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
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Ambulatório de Genética Médica,Hospital Escola da Universidade Federal de Pelotas 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1

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