ClinVar Miner

Variants in gene SMARCA2

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
36 43 102 60 77 28 298

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nicolaides-Baraitser syndrome 23 15 60 18 68 0 183
not provided 9 11 14 5 3 28 67
History of neurodevelopmental disorder 0 0 3 32 18 0 53
not specified 0 0 8 10 10 0 27
Intellectual disability 1 13 5 1 0 0 20
Inborn genetic diseases 1 2 5 0 0 0 8
BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 5 0 0 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
Arnold-Chiari malformation 0 0 1 0 0 0 1
Blepharophimosis - intellectual disability syndrome 0 1 0 0 0 0 1
Blepharophimosis; Intellectual disability 0 1 0 0 0 0 1
Coffin-Siris syndrome 1; Nicolaides-Baraitser syndrome 0 0 1 0 0 0 1
Hirsutism; Intellectual disability 0 1 0 0 0 0 1
Internal malformations 0 0 1 0 0 0 1
Mental retardation, autosomal dominant 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Nicolaides-Baraitser syndrome; Coffin-Siris syndrome 0 0 0 0 0 1 1
Pituitary stalk interruption syndrome 0 1 0 0 0 0 1
Severe intellectual deficiency 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 44 14 66 0 124
Ambry Genetics 1 2 8 32 18 0 61
Genetic Services Laboratory, University of Chicago 2 3 9 9 10 0 33
UniProtKB/Swiss-Prot 0 0 0 0 0 28 28
GeneDx 8 9 4 1 0 0 22
OMIM 19 0 0 0 0 0 19
Fondazione Telethon,Telethon Institute of Genetics and Medicine 0 10 5 0 0 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 9 2 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 2 1 4 3 0 0 10
Baylor Genetics 0 2 6 0 0 0 8
Diagnostic Laboratory, Strasbourg University Hospital 1 5 2 0 0 0 8
Mendelics 0 1 1 1 1 0 4
Autoinflammatory diseases unit,CHU de Montpellier 2 1 0 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 1 0 2
Integrated Genetics/Laboratory Corporation of America 1 0 1 0 0 0 2
Invitae 0 0 0 1 1 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 1 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Fulgent Genetics,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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 1 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 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
Breda Genetics srl 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Human Developmental Genetics,Institut Pasteur 0 1 0 0 0 0 1

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