ClinVar Miner

Variants studied for Intellectual disability, autosomal dominant 15

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
6 11 14 0 0 1 26

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
SMARCB1 6 11 13 1 25
DERL3, LOC111721701, MMP11, SLC2A11, SMARCB1 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Baylor Genetics 2 1 4 0 7
Revvity Omics, Revvity 0 2 3 0 5
New York Genome Center 0 1 4 0 5
OMIM 3 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 2
3billion 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 1
GeneReviews 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 1
Suma Genomics 0 1 0 0 1
Laboratory Division, Turku University Hospital 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 1

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