ClinVar Miner

Variants in gene SMARCA2

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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
23 18 46 76 23 28 188

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nicolaides-Baraitser syndrome 15 9 19 50 10 0 103
History of neurodevelopmental disorder 0 0 3 33 17 0 53
not provided 8 8 7 1 2 28 52
not specified 0 0 8 11 7 0 26
Inborn genetic diseases 1 1 3 0 0 0 5
Coffin Siris/Intellectual Disability 0 0 2 0 0 0 2
Adenoid cystic carcinoma 0 0 1 0 0 0 1
Coffin-Siris syndrome 1; Nicolaides-Baraitser syndrome 0 0 1 0 0 0 1
Intellectual disability 0 0 0 1 0 0 1
Internal malformations 0 0 1 0 0 0 1
Mental retardation, autosomal dominant 0 0 1 0 0 0 1
Severe intellectual deficiency 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 15 50 9 0 74
Ambry Genetics 1 1 6 33 17 0 58
Genetic Services Laboratory, University of Chicago 1 4 10 11 7 0 33
UniProtKB/Swiss-Prot 0 0 0 0 0 28 28
GeneDx 8 8 4 0 0 0 20
OMIM 14 0 0 0 0 0 14
Baylor Miraca Genetics Laboratories, 0 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 1 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 1 1 0 0 2
Laboratory of Molecular Genetics,CHU RENNES 0 1 1 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Fulgent Genetics 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 1

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