ClinVar Miner

Variants studied for developmental and epileptic encephalopathy, 26

Included ClinVar conditions (1):
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 total
38 45 222 272 101 650

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KCNB1 37 45 220 272 101 647
ACOT8, ADA, ARFGEF2, B4GALT5, CCN5, CD40, CDH22, CSE1L, CTSA, DBNDD2, DDX27, DNTTIP1, ELMO2, EPPIN, EPPIN-WFDC6, EYA2, HNF4A, KCNB1, KCNK15, KCNS1, MATN4, MMP9, NCOA3, NCOA5, NEURL2, OCSTAMP, PABPC1L, PCIF1, PI3, PIGT, PKIG, PLTP, PREX1, PTGIS, RBPJL, RIMS4, RNF114, SDC4, SEMG1, SEMG2, SERINC3, SLC12A5, SLC13A3, SLC2A10, SLC35C2, SLC9A8, SLPI, SNX21, SPATA2, SPATA25, SPINT3, SPINT4, STAU1, STK4, SULF2, SYS1, TNNC2, TOMM34, TP53RK, TP53TG5, TTPAL, UBE2C, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, YWHAB, ZMYND8, ZNF334, ZNF335, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3 1 0 0 0 0 1
ARFGEF2, CSE1L, DDX27, KCNB1, STAU1, ZNFX1 0 0 1 0 0 1
DDX27, KCNB1, LOC112694720, LOC130066087, LOC130066088, LOC130066089, LOC130066090, LOC130066091, SNORD12, SNORD12B, SNORD12C, STAU1, ZFAS1, ZNFX1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 24 17 187 271 101 600
Institute of Human Genetics, University of Leipzig Medical Center 5 3 4 0 0 12
Baylor Genetics 3 4 3 0 0 10
Revvity Omics, Revvity 0 0 8 0 0 8
Mendelics 2 5 0 0 0 7
Fulgent Genetics, Fulgent Genetics 2 1 0 3 1 7
New York Genome Center 1 1 5 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 0 6 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 2 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 4
OMIM 3 0 0 0 0 3
MGZ Medical Genetics Center 0 2 1 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 2
Illumina Laboratory Services, Illumina 1 0 1 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 1 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 1 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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