ClinVar Miner

Variants studied for developmental and epileptic encephalopathy, 54

Included ClinVar conditions (2):
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
67 33 259 391 52 6 787

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HNRNPU 65 30 258 385 52 6 775
HNRNPU, LOC129932913 0 2 1 5 0 0 8
ADSS2, AHCTF1, AKT3, CATSPERE, CEP170, CNST, COX20, DESI2, EFCAB2, EXO1, GCSAML, HNRNPU, KIF26B, LINC02897, LYPD8, MAP1LC3C, NLRP3, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, PGBD2, PLD5, SCCPDH, SDCCAG8, SH3BP5L, SMYD3, SPMIP3, TFB2M, TRIM58, VN1R5, ZBTB18, ZNF124, ZNF496, ZNF669, ZNF670, ZNF672, ZNF692, ZNF695 0 1 0 0 0 0 1
ADSS2, AKT3, CATSPERE, COX20, DESI2, HNRNPU, SPMIP3, ZBTB18 1 0 0 0 0 0 1
ADSS2, C1orf100, CATSPERE, COX20, DESI2, EFCAB2, HNRNPU, KIF26B, SMYD3, TFB2M 0 1 0 0 0 0 1
CNST, COX20, DESI2, EFCAB2, HNRNPU, KIF26B, SMYD3, TFB2M 0 1 0 0 0 0 1
COX20, HNRNPU 1 0 0 0 0 0 1
NIPBL 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 40 10 228 382 52 0 712
PreventionGenetics, part of Exact Sciences 0 0 6 9 0 0 15
Revvity Omics, Revvity 0 1 7 0 0 0 8
Mendelics 7 1 0 0 0 0 8
Laboratory of Medical Genetics, University of Torino 0 7 1 0 0 0 8
Baylor Genetics 0 1 5 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 4 2 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 5 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 0 4
OMIM 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 3
3billion 0 3 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 1 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Department of Pediatric Neurology and Endocrinology, Affiliated Hospital of Qingdao University 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 1 0 0 0 0 1
Breda Genetics srl 0 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1

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