ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 5

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
259 99 445 587 156 10 1495

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SYNGAP1 257 96 434 584 156 10 1476
MIR5004, SYNGAP1 1 3 7 3 0 0 14
B3GALT4, COL11A2, CUTA, DAXX, HCG25, HSD17B8, KIFC1, LINC03223, 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: 96
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 169 27 388 582 155 0 1321
Baylor Genetics 10 2 12 0 0 0 24
Institute of Human Genetics, University of Leipzig Medical Center 11 6 7 0 0 0 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 4 3 0 0 0 20
3billion 8 6 2 1 0 0 17
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
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 11 0 0 0 0 0 11
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 6 0 0 0 10
Mendelics 7 2 1 0 0 0 10
OMIM 10 0 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 8 1 0 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 5 0 0 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 5 0 0 0 0 8
Department of Pediatric Neurology, Seoul National University Children's Hospital 6 2 0 0 0 0 8
GenomeConnect - Brain Gene Registry 0 0 0 0 0 8 8
Neuberg Centre For Genomic Medicine, NCGM 1 1 5 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 4 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 5 1 0 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, TUM University Hospital 2 2 0 0 0 0 4
MVZ Martinsried, Medicover Genetics 3 0 1 0 0 0 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 1 1 0 0 3
Department of Human Genetics, Hannover Medical School 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 1 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
MGZ Medical Genetics Center 0 2 1 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 3 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Department of Clinical Genetics, Medical University of Lodz 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 1 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 1 1 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 1 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 2 0 0 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Centre for Human Genetics, University of Kinshasa 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Exon Genomics 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Dasa 0 1 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 0 1 0 0 0 0 1
Department of Pediatrics, Salzburger Landeskliniken & Paracelsus Medical University 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Genelabs Medical (pvt) Ltd 0 1 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 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
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 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
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1

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