ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 31A

Coded as:
Minimum submission review status: Collection method:
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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
25 28 263 379 57 742

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DNM1 14 15 178 276 41 518
DNM1, LOC113839516 4 9 41 47 8 107
CIZ1, DNM1 3 3 17 18 3 42
DNM1, LOC130002698 2 1 12 21 2 38
DNM1, LOC130002699 1 0 11 11 3 26
DNM1, LOC130002697 0 0 0 6 0 6
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
AK1, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, EEIG1, ENG, FPGS, GLE1, GOLGA2, LCN2, MIR199B, MIR2861, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRUB2, TTC16, URM1 1 0 0 0 0 1
CIZ1, DNM1, MIR199B 0 0 1 0 0 1
DNM1, MIR199B, MIR3154 0 0 1 0 0 1
MBD5 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 17 11 235 377 57 697
Institute of Human Genetics, University of Leipzig Medical Center 0 3 5 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 1 1 6 0 0 8
OMIM 6 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 1 0 1 3 1 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 4 0 0 6
Baylor Genetics 0 1 3 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 1 0 3
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 3 0 0 0 3
DASA 1 2 0 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
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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 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, Medical Genetics 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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