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
34 11 104 59 41 11 241

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rhabdoid tumor predisposition syndrome 1 13 4 38 35 7 0 97
not provided 8 4 44 2 34 2 93
Hereditary cancer-predisposing syndrome 1 0 9 14 2 0 26
not specified 0 0 1 10 3 9 22
Coffin-Siris syndrome 0 0 11 6 3 0 20
Rhabdoid tumor 0 0 11 6 3 0 20
Schwannomatosis 0 0 11 6 3 0 20
Schwannomatosis 1 7 0 1 0 0 0 8
Mental retardation, autosomal dominant 15 3 3 2 0 0 0 7
Rhabdoid tumor predisposition syndrome 1; Schwannomatosis 2 0 4 1 0 0 7
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
Inborn genetic diseases 0 1 0 0 0 0 1
Natural killer 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

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 14 5 75 36 7 0 137
GeneDx 5 1 2 8 31 0 47
Ambry Genetics 1 1 10 15 2 0 29
Illumina Clinical Services Laboratory,Illumina 0 0 11 6 3 0 20
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
Genetic Services Laboratory, University of Chicago 0 1 0 2 1 0 4
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 3 0 4
Baylor Genetics 0 0 2 0 0 0 2
PreventionGenetics 0 0 0 0 2 0 2
GeneReviews 2 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 1 0 1 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 2 2
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 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
Institute of Human Genetics,Klinikum rechts der Isar 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1

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