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
109 81 664 404 127 121 1401

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 32 19 631 400 120 26 1144
KCNQ2 74 52 30 4 7 93 239
CCN4, DNAAF11, KCNQ3, NDRG1, PHF20L1, SLA, TG, TMEM71 1 0 2 0 0 0 3
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: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 31 9 482 360 25 0 907
Illumina Laboratory Services, Illumina 1 0 146 46 108 0 268
GeneReviews 12 0 0 0 0 117 129
Fulgent Genetics, Fulgent Genetics 6 3 18 8 1 0 36
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
Institute of Human Genetics, University of Leipzig Medical Center 5 5 2 0 0 0 12
OMIM 11 0 0 0 0 0 11
Revvity Omics, Revvity 1 0 7 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 6 0 0 0 8
Baylor Genetics 2 0 5 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 1 4 2 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 1 0 0 0 6
New York Genome Center 0 1 5 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 3 0 5
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 1 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Athena Diagnostics 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
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
3billion 0 1 1 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 2 2
Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia of Catanzaro 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 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
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 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
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 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
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 1 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 1
Genetics Department, Catlab 0 1 0 0 0 0 1

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