ClinVar Miner

Variants in gene SMARCA4

See also:
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 other not provided total
59 41 1128 1018 102 1 24 2202

Condition and significance breakdown #

Total conditions: 16
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Hereditary cancer-predisposing syndrome 13 5 653 596 21 0 0 1288
Rhabdoid tumor predisposition syndrome 2 35 8 761 108 5 0 0 917
not provided 9 19 30 624 85 0 7 762
not specified 0 0 25 109 28 0 17 156
Coffin-Siris syndrome 0 0 20 44 16 0 0 80
Rhabdoid tumor predisposition syndrome 2; Mental retardation, autosomal dominant 16 0 2 21 0 0 0 0 23
Mental retardation, autosomal dominant 16 8 6 1 0 0 0 0 15
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
bilateral breast cancer 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 25 7 760 717 66 0 0 1575
Ambry Genetics 16 5 659 597 21 0 0 1298
GeneDx 8 18 14 102 39 0 0 181
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,Fulgent Genetics 0 0 21 0 0 0 0 21
ITMI 0 0 0 0 0 0 17 17
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 13 2 0 0 0 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,PreventionGenetics 0 0 0 0 7 0 0 7
Mendelics 0 0 2 4 1 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 4 0 0 6
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
Institute of Human Genetics,Klinikum rechts der Isar 2 1 0 0 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 1 0 2
Génétique des Maladies du Développement, 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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Lineagen, Inc 0 0 1 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, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's 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
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.