ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 33

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 not provided total
12 11 141 251 36 2 448

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 not provided total
EEF1A2 11 11 102 225 33 2 379
EEF1A2, LOC132090595 1 0 27 26 3 0 57
EEF1A2, KCNQ2 0 0 3 0 0 0 3
EEF1A2, PPDPF 0 0 2 0 0 0 2
ABHD16B, ADRM1, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CABLES2, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LAMA5, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, OSBPL2, PPDPF, PRPF6, PTK6, RBBP8NL, RPS21, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 0 1 0 0 0 1
ABHD16B, ADRM1, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CABLES2, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LAMA5, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, OSBPL2, PPDPF, PRPF6, PTK6, RBBP8NL, RPS21, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 0 1 0 0 0 1
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PTK6, RTEL1, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT 0 0 1 0 0 0 1
ARFGAP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, EEF1A2, GID8, HAR1A, HAR1B, KCNQ2, NKAIN4, SLC17A9, TCFL5, YTHDF1 0 0 1 0 0 0 1
CHRNA4, EEF1A2, KCNQ2, PPDPF 0 0 1 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212 0 0 1 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212, LOC130066357, LOC132090595, LOC132090596, PPDPF, PTK6 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 11 4 136 251 35 0 437
Institute of Human Genetics, University of Leipzig Medical Center 0 0 4 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
OMIM 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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