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
85 61 1549 1158 134 1 24 2801

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Rhabdoid tumor predisposition syndrome 2 58 21 1272 809 70 0 0 2228
Hereditary cancer-predisposing syndrome 14 4 645 603 22 0 0 1288
not provided 11 21 37 182 25 0 7 279
not specified 0 0 26 108 27 0 17 157
Coffin-Siris syndrome 0 0 14 6 74 0 0 94
Mental retardation, autosomal dominant 16 9 7 13 0 0 0 0 28
Rhabdoid tumor predisposition syndrome 2; Mental retardation, autosomal dominant 16 0 2 21 0 0 0 0 23
none provided 0 0 4 5 5 0 0 14
Inborn genetic diseases 3 2 4 0 0 0 0 9
History of neurodevelopmental disorder 0 0 5 1 0 0 0 6
Global developmental delay 0 1 1 0 0 0 0 2
Intellectual disability 0 0 1 1 0 0 0 2
Microcephaly 0 0 2 0 0 0 0 2
Atrial septal defect; Delayed speech and language development; Ventricular septal defect 0 1 0 0 0 0 0 1
Autistic behavior; Intellectual disability 0 1 0 0 0 0 0 1
Cerebral palsy; Intellectual disability 1 0 0 0 0 0 0 1
Cleft palate 0 1 0 0 0 0 0 1
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
Malignant tumor of breast 0 0 0 0 1 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
Seizures 0 1 0 0 0 0 0 1
bilateral breast cancer 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 49 19 1266 893 70 0 0 2297
Ambry Genetics 17 5 652 604 22 0 0 1300
GeneDx 8 18 14 102 39 0 0 181
Illumina Clinical Services Laboratory,Illumina 0 1 13 6 74 0 0 94
Genetic Services Laboratory, University of Chicago 3 3 23 20 14 0 0 63
CeGaT Praxis fuer Humangenetik Tuebingen 2 3 16 6 0 0 0 27
Fulgent Genetics,Fulgent Genetics 0 0 21 0 0 0 0 21
ITMI 0 0 0 0 0 0 17 17
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 6 5 0 0 16
OMIM 12 0 0 0 0 0 0 12
Baylor Genetics 1 2 9 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
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 4 1 0 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 1 0 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 0 0 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 2 1 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 1 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 1 0 2
Center of Medical Genetics and Primary Health Care 0 0 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 0 2
St. Jude 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
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 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,CHU Rennes 0 0 1 0 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 1 0 0 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 Ljubljana 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
Autoinflammatory diseases unit,CHU de Montpellier 0 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1

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