ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 16

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 total
13 30 479 61 81 650

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SMARCA4 13 30 479 61 81 650

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 4 458 61 81 604
Revvity Omics, Revvity 1 1 13 0 0 15
Baylor Genetics 1 2 9 0 0 12
OMIM 6 0 0 0 0 6
New York Genome Center 0 0 5 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 4
Illumina Laboratory Services, Illumina 0 2 2 0 0 4
Daryl Scott Lab, Baylor College of Medicine 1 3 0 0 0 4
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 3 1 0 0 4
3billion 1 2 1 0 0 4
Genetic Services Laboratory, University of Chicago 0 3 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 1 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 2
Laboratory of Medical Genetics, University of Torino 0 2 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Children's Hospital of Wisconsin Genetics Clinic, Medical College of Wisconsin 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 1

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