ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 27

Coded as:
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Gene type:
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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 total
13 13 32 2 4 64

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GRIN2B 13 13 32 2 4 64

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Neuberg Centre For Genomic Medicine, NCGM 1 0 10 0 0 11
Baylor Genetics 0 3 5 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 2 4 0 0 8
3billion, Medical Genetics 0 2 3 0 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 1 1 0 4
New York Genome Center 0 0 3 1 0 4
Genome-Nilou Lab 0 0 0 0 4 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 1 0 0 3
OMIM 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 2
Fondazione Telethon, Telethon Institute of Genetics and Medicine 2 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 1
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 0 0 1 0 0 1

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