ClinVar Miner

Variants in gene SMARCB1

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
52 18 217 130 52 11 442

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 34 12 176 99 40 2 355
Hereditary cancer-predisposing syndrome 1 0 31 53 2 0 87
Rhabdoid tumor predisposition syndrome 1 13 3 36 7 14 0 73
Schwannomatosis 1 7 1 16 3 14 0 41
not specified 0 0 1 10 3 9 22
Mental retardation, autosomal dominant 15 3 5 4 0 0 0 11
Rhabdoid tumor predisposition syndrome 1; Schwannomatosis 2 0 3 0 0 0 5
Coffin-Siris syndrome 0 1 3 0 0 0 4
Inborn genetic diseases 1 0 3 0 0 0 4
Rhabdoid tumor 0 0 3 0 1 0 4
Schwannomatosis 0 0 3 0 1 0 4
History of neurodevelopmental disorder 0 0 1 1 0 0 2
Malignant rhabdoid tumor, somatic 2 0 0 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
Schwannoma; Peripheral Schwannoma 1 0 0 0 0 0 1
Schwannomatosis 1, somatic 1 0 0 0 0 0 1
Teratoid tumor, atypical 1 0 0 0 0 0 1
none provided 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 30 8 168 97 8 0 311
Ambry Genetics 2 0 35 54 2 0 93
GeneDx 5 1 2 8 31 0 47
Illumina Clinical Services Laboratory,Illumina 0 0 18 3 15 0 36
OMIM 14 0 0 0 0 0 14
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 6 3 0 0 9
ITMI 0 0 0 0 0 9 9
Baylor Genetics 1 2 4 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 3 1 0 0 7
Integrated Genetics/Laboratory Corporation of America 0 1 1 0 3 0 5
Genetic Services Laboratory, University of Chicago 0 1 0 2 1 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 1 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 1 0 2
PreventionGenetics, PreventionGenetics 0 0 0 0 2 0 2
GeneReviews 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 2 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 1 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
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 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 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

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