ClinVar Miner

Variants studied for Hypotonia, ataxia, and delayed development syndrome

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
27 26 25 0 0 9 77

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
EBF3 27 26 25 9 77

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Revvity Omics, Revvity 2 0 9 0 11
OMIM 10 0 0 0 10
GeneReviews 0 0 0 8 8
Baylor Genetics 3 1 3 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 4 1 0 6
Mendelics 2 2 0 0 4
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 3 1 0 4
3billion 1 2 1 0 4
NEUROCHILD, Pediatric Research Center 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 3
MGZ Medical Genetics Center 0 1 1 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 2
Suma Genomics 1 1 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 1
Breda Genetics srl 0 0 1 0 1
New York Genome Center 0 0 1 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 1
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 1

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