ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 5

Coded as:
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
230 89 413 550 147 9 1382

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SYNGAP1 228 86 403 548 147 9 1365
MIR5004, SYNGAP1 1 3 6 2 0 0 12
B3GALT4, COL11A2, CUTA, DAXX, HCG25, HSD17B8, KIFC1, LOC105375022, LOC123620086, LOC129389491, MIR219A1, MIR5004, MIR6834, MIR6873, PFDN6, PHF1, RGL2, RING1, RPS18, RXRB, SLC39A7, SMIM40, SYNGAP1, TAPBP, VPS52, WDR46, ZBTB22 0 0 1 0 0 0 1
B3GALT4, COL11A2, CUTA, DAXX, HSD17B8, KIFC1, MIR219A1, PFDN6, PHF1, RGL2, RING1, RPS18, RXRB, SLC39A7, SYNGAP1, TAPBP, VPS52, WDR46, ZBTB22 0 0 1 0 0 0 1
BAK1, CUTA, ITPR3, KIFC1, PHF1, SYNGAP1, ZBTB9 0 0 1 0 0 0 1
BAK1, ITPR3, SYNGAP1, UQCC2, ZBTB9 1 0 0 0 0 0 1
SYNGAP1, ZBTB9 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 82
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 160 25 354 544 146 0 1229
Baylor Genetics 10 2 12 0 0 0 24
Revvity Omics, Revvity 3 4 15 1 1 0 24
Institute of Human Genetics, University of Leipzig Medical Center 8 6 6 0 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 4 3 0 0 0 15
Génétique des Maladies du Développement, Hospices Civils de Lyon 14 1 0 0 0 0 15
Fulgent Genetics, Fulgent Genetics 4 0 5 5 0 0 14
New York Genome Center 1 0 12 0 0 0 13
OMIM 10 0 0 0 0 0 10
Mendelics 7 2 1 0 0 0 10
3billion, Medical Genetics 5 2 2 1 0 0 10
Genetic Services Laboratory, University of Chicago 8 1 0 0 0 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 5 0 0 0 0 8
GenomeConnect - Brain Gene Registry 0 0 0 0 0 8 8
Department of Pediatric Neurology, Seoul National University Children's Hospital 6 2 0 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 4 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 4 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 1 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 2 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 4 0 0 0 0 0 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 1 1 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 3 0 0 0 0 3
MGZ Medical Genetics Center 0 2 1 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Pediatric Department, Xiangya Hospital, Central South University 1 1 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Department of Clinical Genetics, Medical University of Lodz 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Variantyx, Inc. 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
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Department of Pediatrics, Salzburger Landeskliniken & Paracelsus Medical University 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Exon Genomics 1 0 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.