ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 66

Coded as:
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 total
1 2 34 3 0 38

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
PACS2 1 2 32 3 36
BRF1, LOC130056677, PACS2 0 0 1 0 1
BRF1, PACS2 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Revvity Omics, Revvity 0 0 12 0 12
Neuberg Centre For Genomic Medicine, NCGM 0 0 7 0 7
New York Genome Center 0 0 6 0 6
Baylor Genetics 1 0 2 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 3
Fulgent Genetics, Fulgent Genetics 1 0 0 2 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 2
3billion, Medical Genetics 1 0 0 1 2
OMIM 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 1
Mendelics 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 1
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 1

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