ClinVar Miner

Variants in gene SMARCA4

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Minimum submission review status: Collection method:
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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 other not provided total
46 36 817 694 72 1 24 1550

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Rhabdoid tumor predisposition syndrome 2 29 10 610 455 61 0 0 1165
Hereditary cancer-predisposing syndrome 4 0 368 379 18 0 0 769
not specified 0 0 24 108 27 0 17 154
Coffin-Siris syndrome 0 0 20 44 16 0 0 80
not provided 9 18 19 6 1 0 7 59
Rhabdoid tumor predisposition syndrome 2; Mental retardation, autosomal dominant 16 0 2 21 0 0 0 0 23
Mental retardation, autosomal dominant 16 7 4 1 0 0 0 0 12
Inborn genetic diseases 3 1 3 0 0 0 0 7
History of neurodevelopmental disorder 0 0 5 1 0 0 0 6
Coffin-Siris syndrome 1 0 0 1 0 0 0 0 1
Craniopharyngioma 0 0 1 0 0 0 0 1
Global developmental delay; Single transverse palmar crease; Facial asymmetry; Strabismus; Ventricular septal defect 0 0 0 1 0 0 0 1
Medulloblastoma 0 0 0 0 0 1 0 1
Neuroblastoma 0 1 0 0 0 0 0 1
Obesity; intellectual deficiency 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 19 9 610 455 61 0 0 1154
Ambry Genetics 7 1 376 380 18 0 0 782
GeneDx 8 18 14 93 15 0 0 148
Illumina Clinical Services Laboratory,Illumina 0 0 19 44 16 0 0 79
Genetic Services Laboratory, University of Chicago 3 3 23 21 13 0 0 63
Fulgent Genetics 0 0 21 0 0 0 0 21
ITMI 0 0 0 0 0 0 17 17
OMIM 12 0 0 0 0 0 0 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 6 1 0 0 9
PreventionGenetics 0 0 0 0 7 0 0 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 1 2 0 0 5
UniProtKB/Swiss-Prot 0 0 0 0 0 0 5 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 0 0 0 0 3
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 1 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 2 0 0 0 0 0 2
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 1 1 0 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
Department of Molecular Diagnostics,Institute of Oncology 0 1 0 0 0 0 0 1
Cancer Genomics Laboratory,Texas Children's Hospital 1 0 0 0 0 0 0 1
Children's Hospital of Wisconsin Genetics Clinic,Medical College of Wisconsin 0 1 0 0 0 0 0 1

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