ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 31

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
19 23 231 333 57 657

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DNM1 12 11 156 246 41 462
DNM1, LOC113839516 2 8 37 45 8 99
CIZ1, DNM1 2 3 14 14 3 35
DNM1, LOC130002698 2 1 10 15 2 30
DNM1, LOC130002699 1 0 11 9 3 24
DNM1, LOC130002697 0 0 0 4 0 4
AK1, ANGPTL2, BBLN, CDK9, CFAP157, CIZ1, DNM1, DPM2, EEIG1, ENG, FPGS, GARNL3, LCN2, LMX1B, LRSAM1, MIR199B, MIR2861, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, RALGPS1, RPL12, SH2D3C, SLC25A25, SLC2A8, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16, ZBTB34, ZBTB43, ZNF79 0 0 1 0 0 1
CIZ1, DNM1, MIR199B 0 0 1 0 0 1
DNM1, MIR199B, MIR3154 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 10 9 209 332 57 617
OMIM 6 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 1 0 1 3 1 6
Institute of Human Genetics, University of Leipzig Medical Center 0 1 4 0 0 5
Baylor Genetics 0 1 3 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 3 0 0 4
Department of Laboratory Medicine, Yonsei University College of Medicine 0 3 0 0 0 3
DASA 1 2 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 3
Mendelics 0 0 2 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 2
New York Genome Center 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 1
3billion 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 1

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