ClinVar Miner

Variants studied for infantile spasms

Included ClinVar conditions (18):
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
437 188 1039 1143 454 7 3168

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GRIN2B 53 32 354 577 184 1 1182
CDKL5 309 102 234 269 80 1 954
PIK3AP1 0 0 220 181 32 0 433
SPTAN1 16 38 135 57 126 1 342
CDKL5, RS1 11 2 62 52 23 1 142
SCN2A 23 4 0 0 0 2 29
ST3GAL3 5 1 11 2 3 0 22
GUF1 1 1 5 0 6 0 13
LOC130004439, PIK3AP1 0 0 7 3 0 0 10
CDKL5, LOC130067999 4 0 0 0 0 0 4
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 2 0 0 0 3
LOC130004450, PIK3AP1 0 0 1 2 0 0 3
MAST4 0 2 1 0 0 0 3
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 1 0 1 0 0 0 2
APOLD1, CDKN1B, DDX47, EMP1, FAM234B, GPRC5A, GPRC5D, GRIN2B, GSG1, HEBP1 1 0 1 0 0 0 2
LOC102724058, SCN1A 0 0 1 0 0 1 2
STXBP1 1 1 0 0 0 0 2
APOLD1, ARHGDIB, ART4, ATF7IP, BCL2L14, BORCS5, C12orf60, CDKN1B, CREBL2, DDX47, DUSP16, EMP1, EPS8, ERP27, ETV6, FAM234B, GPR19, GPRC5A, GPRC5D, GRIN2B, GSG1, GUCY2C, H2AJ, H4C16, HEBP1, LRP6, MANSC1, MGP, PDE6H, PLBD1, PTPRO, RERG, SMCO3, WBP11 0 0 1 0 0 0 1
ARFGAP1, BIRC7, CHRNA4, COL20A1, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, NKAIN4, PPDPF, PTK6, RTEL1, SRMS, STMN3, YTHDF1 1 0 0 0 0 0 1
ARX, LOC109610631 1 0 0 0 0 0 1
ATP6V1A 0 0 1 0 0 0 1
B3GALT1, CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC122847309, LOC126806396, LOC126806397, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, SCN1A, SCN2A, SCN7A, SCN9A, TTC21B, XIRP2 1 0 0 0 0 0 1
BEND2, CDKL5, NHS, RAI2, SCML1, SCML2 1 0 0 0 0 0 1
CACNA1A 0 1 0 0 0 0 1
CDKL5, LOC121853052, LOC130067999 1 0 0 0 0 0 1
DNM1 1 0 0 0 0 0 1
DYNC2I2, GLE1, SPTAN1 0 1 0 0 0 0 1
GAD1 0 0 1 0 0 0 1
KCNQ2 0 1 0 0 0 0 1
KCNT1 1 0 0 0 0 0 1
LOC132090427, LOC132090428, LOC132090429, LOC132090888, WWOX 1 0 0 0 0 0 1
MECP2 0 0 1 0 0 0 1
SCN8A 0 1 0 0 0 0 1
SNAP25 1 0 0 0 0 0 1
TUBA1A 1 0 0 0 0 0 1
UGDH 0 1 0 0 0 0 1
WWOX 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 99
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 232 46 798 1071 319 0 2466
Genome-Nilou Lab 0 4 67 31 140 0 242
RettBASE 75 8 4 0 0 0 87
Institute of Human Genetics, University of Leipzig Medical Center 16 24 17 3 1 0 61
Genetic Services Laboratory, University of Chicago 23 5 27 0 0 0 55
Fulgent Genetics, Fulgent Genetics 1 0 21 15 4 0 41
Baylor Genetics 2 6 23 0 0 0 31
Mendelics 19 5 1 2 3 0 30
Neuberg Centre For Genomic Medicine, NCGM 2 4 21 0 0 0 27
OMIM 25 0 0 0 0 0 25
3billion, Medical Genetics 1 6 7 8 0 0 22
Neurology Department, Shenzhen Children's Hospital 22 0 0 0 0 0 22
New York Genome Center 1 3 14 1 0 0 19
Génétique des Maladies du Développement, Hospices Civils de Lyon 9 4 1 3 0 0 17
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 11 2 4 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 11 2 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 5 2 0 0 13
Revvity Omics, Revvity 3 1 8 0 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 6 1 0 0 11
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 7 4 0 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 9 0 0 0 10
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 4 1 1 1 0 7
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 6 1 0 0 0 7
Solve-RD Consortium 0 6 0 0 0 0 6
MGZ Medical Genetics Center 1 1 3 0 0 0 5
Undiagnosed Diseases Network, NIH 4 1 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 5 0 0 5
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 1 2 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 1 0 0 0 5
MVZ Medizinische Genetik Mainz 0 3 2 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 1 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 1 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 3 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 2 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 1 0 0 0 4
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 3 0 0 0 0 4
Pediatric Department, Xiangya Hospital, Central South University 4 0 0 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
Department of Neurology, Children’s Hospital of Chongqing Medical University 1 3 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 2 1 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 1 2 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 1 0 0 0 3
Molecular Genetics Lab, CHRU Brest 1 0 2 0 0 0 3
National Health Commission Key Laboratory of Birth Defects Research, Maternal and Child Health Hospital of Hunan 0 2 1 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 0 2
Dobyns Lab, Seattle Children's Research Institute 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 1 0 0 0 0 2
Fondazione Telethon, Telethon Institute of Genetics and Medicine 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 2
Pediatrics, MediClubGeorgia 1 1 0 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 1 1
Blueprint Genetics 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
ITMI 1 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 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
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Molecular Medicine, University of Pavia 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 1
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 1 0 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

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