ClinVar Miner

Variants in gene SMARCB1

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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
75 40 434 451 82 13 1010

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 51 21 338 391 69 2 854
Hereditary cancer-predisposing syndrome 6 4 138 179 11 0 328
Rhabdoid tumor predisposition syndrome 1 10 1 32 5 15 0 62
Schwannomatosis 1 9 2 16 3 14 1 45
not specified 0 0 5 14 5 9 30
Intellectual disability, autosomal dominant 15 6 11 12 0 0 1 24
Schwannomatosis 3 0 3 0 1 0 7
Inborn genetic diseases 1 0 5 0 0 0 6
Coffin-Siris syndrome 0 2 3 0 0 0 5
SMARCB1-related condition 0 0 5 0 0 0 5
Rhabdoid tumor predisposition syndrome 0 0 3 0 1 0 4
SMARCB1-related BAFopathy 2 1 1 0 0 0 4
Autism spectrum disorder 0 1 0 1 0 0 2
Developmental disorder 0 0 1 1 0 0 2
Malignant rhabdoid tumor, somatic 2 0 0 0 0 0 2
Rhabdoid tumor predisposition syndrome 2 0 0 2 0 0 0 2
Adenoid cystic carcinoma 0 0 1 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
NK-cell enteropathy 0 1 0 0 0 0 1
Neoplasm of the central nervous system 1 0 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Ovarian cancer 0 1 0 0 0 0 1
SMARCB1-Related Disorders 0 1 0 0 0 0 1
Schwannoma; Peripheral schwannoma 1 0 0 0 0 0 1
Schwannomatosis 1, somatic 1 0 0 0 0 0 1
Schwannomatosis 1; Rhabdoid tumor predisposition syndrome 1; Intellectual disability, autosomal dominant 15 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Teratoid tumor, atypical 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 48 15 318 353 11 0 745
Ambry Genetics 7 4 134 179 3 0 327
GeneDx 6 3 24 35 57 0 125
Illumina Laboratory Services, Illumina 0 0 18 3 15 0 36
Sema4, Sema4 0 0 11 8 8 0 27
CeGaT Center for Human Genetics Tuebingen 1 3 5 16 2 0 27
Baylor Genetics 4 1 19 0 0 0 23
OMIM 14 0 0 0 0 0 14
Genetic Services Laboratory, University of Chicago 0 2 1 5 2 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 5 4 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 4 1 3 0 10
Eurofins Ntd Llc (ga) 0 0 6 3 0 0 9
ITMI 0 0 0 0 0 9 9
Preventiongenetics, part of Exact Sciences 0 0 5 0 2 0 7
Revvity Omics, Revvity Omics 0 2 3 0 0 0 5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 1 2 0 0 5
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 3 0 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 2 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Medical Genomics Laboratory, Department of Genetics UAB 2 0 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Mendelics 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 2 2
3billion 1 1 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 0 0 1
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Fernandez-Valle lab, University of Central Florida 1 0 0 0 0 0 1
Laboratory Division, Turku University Hospital 1 0 0 0 0 0 1
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 1 0 0 0 0 1

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