ClinVar Miner

Variants studied for benign neonatal seizures

Included ClinVar conditions (6):
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 not provided total
96 70 606 373 127 121 1297

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KCNQ3 30 16 581 370 120 26 1063
KCNQ2 63 44 23 3 7 93 217
CCN4, DNAAF11, KCNQ3, NDRG1, PHF20L1, SLA, TG, TMEM71 1 0 1 0 0 0 2
CHRNA4, KCNQ2 0 2 0 0 0 0 2
KCNQ2, LOC125387319 1 0 0 0 0 1 2
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, LKAAEAR1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, MYT1, NKAIN4, NPBWR2, NTSR1, OGFR, OPRL1, PCMTD2, PPDPF, PRPF6, PTK6, RGS19, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCEA2, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, PPDPF, PRPF6, PTK6, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, LKAAEAR1, MRGBP, MYT1, NKAIN4, NPBWR2, NTSR1, OGFR, OPRL1, PCMTD2, PPDPF, PRPF6, PTK6, RGS19, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCEA2, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BIRC7, CHRNA4, COL20A1, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, NKAIN4, PPDPF, PRPF6, PTK6, RTEL1, SAMD10, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 1
ATP1A3 1 0 0 0 0 0 1
CHRNA4, COL20A1, KCNQ2 0 1 0 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, SRMS 0 1 0 0 0 0 1
CHRNA4, EEF1A2, KCNQ2 0 1 0 0 0 0 1
EEF1A2, KCNQ2 0 1 0 0 0 0 1
KCNQ2, LOC129391211 0 0 0 0 0 1 1
KCNQ3, LOC114827840 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 29 8 434 330 25 0 826
Illumina Laboratory Services, Illumina 1 0 146 46 108 0 268
GeneReviews 12 0 0 0 0 117 129
Fulgent Genetics, Fulgent Genetics 5 2 16 8 1 0 32
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 25 0 0 0 0 27
Mendelics 11 6 0 1 4 0 22
Génétique des Maladies du Développement, Hospices Civils de Lyon 11 6 0 0 0 0 17
OMIM 11 0 0 0 0 0 11
Revvity Omics, Revvity 1 0 7 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 4 2 0 0 0 8
Baylor Genetics 2 0 5 0 0 0 7
Center of Excellence for Medical Genomics, Chulalongkorn University 7 0 0 0 0 0 7
MGZ Medical Genetics Center 1 3 2 0 0 0 6
NeuroMeGen, Hospital Clinico Santiago de Compostela 4 1 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 3 0 0 0 5
New York Genome Center 0 1 4 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 4 0 0 0 5
Genome-Nilou Lab 0 0 0 0 4 0 4
Athena Diagnostics Inc 0 0 0 0 3 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 3 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 0 1 0 0 0 0 1
University of British Columbia, BC Children's Hospital 0 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 1

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