ClinVar Miner

Variants in gene SMARCA4

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Gene type:
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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
174 126 2660 2800 247 1 32 5481

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Rhabdoid tumor predisposition syndrome 2 118 51 2028 2250 115 0 0 4545
Hereditary cancer-predisposing syndrome 48 15 1271 1283 106 0 0 2617
Intellectual disability, autosomal dominant 16 13 30 479 61 81 0 0 650
not provided 20 23 279 221 128 0 11 627
SMARCA4-related condition 1 3 39 118 3 0 0 164
not specified 0 0 36 84 39 0 17 158
Coffin-Siris syndrome 0 0 14 4 74 0 0 92
Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 0 2 29 17 0 0 1 49
Inborn genetic diseases 3 2 7 1 0 0 0 13
SMARCA4-related BAFopathy 1 9 1 0 0 0 0 11
Global developmental delay 0 2 2 0 0 0 0 4
Coffin-Siris syndrome; Small cell carcinoma of the ovary, hypercalcemic type 0 0 0 0 0 0 2 2
Intellectual disability 0 0 1 1 0 0 0 2
Microcephaly 0 0 2 0 0 0 0 2
Neurodevelopmental disorder 0 0 2 0 0 0 0 2
Adrenal cortex carcinoma 0 0 1 0 0 0 0 1
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
Diffuse midline glioma, H3 K27-altered 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
Hereditary cancer 0 0 1 0 0 0 0 1
Hereditary cancer-predisposing syndrome; Childhood neoplasm 0 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 16; Small cell carcinoma of the ovary, hypercalcemic type 0 0 0 0 0 0 1 1
Malignant tumor of breast 0 0 0 0 1 0 0 1
Medulloblastoma 0 0 0 0 0 1 0 1
Neoplasm of ovary 0 0 0 0 1 0 0 1
Neuroblastoma 0 1 0 0 0 0 0 1
Obesity; intellectual deficiency 0 0 1 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1
Seizure 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: 81
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 108 43 2005 2251 115 0 0 4522
Ambry Genetics 51 15 1209 1261 37 0 0 2573
Genome-Nilou Lab 0 4 458 61 81 0 0 604
GeneDx 16 19 206 184 74 0 0 499
Sema4, Sema4 0 1 90 135 74 0 0 300
PreventionGenetics, part of Exact Sciences 1 3 39 118 10 0 0 171
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 47 34 70 0 0 152
Baylor Genetics 3 15 133 0 0 0 0 150
CeGaT Center for Human Genetics Tuebingen 3 3 17 70 13 0 0 106
Illumina Laboratory Services, Illumina 0 3 16 4 74 0 0 97
Genetic Services Laboratory, University of Chicago 3 3 31 29 17 0 0 83
Fulgent Genetics, Fulgent Genetics 0 0 29 17 0 0 0 46
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 11 16 0 0 33
ITMI 0 0 0 0 0 0 17 17
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 15 2 0 0 0 17
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 1 12 2 0 0 0 17
Revvity Omics, Revvity 1 1 13 0 0 0 0 15
OMIM 12 0 0 0 0 0 0 12
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 8 0 0 12
Mendelics 2 0 4 4 1 0 0 11
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 7 2 0 0 0 0 10
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 6 1 0 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 6 3 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 2 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 2 0 0 6
Eurofins Ntd Llc (ga) 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
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 5 5
New York Genome Center 0 0 5 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 2 1 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 1 3 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 0 4
3billion 1 2 1 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 4 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 3 0 0 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 1 0 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 2 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 1 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 1 1 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 2
Athena Diagnostics Inc 0 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 1 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 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 and Genomics, 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
Genome Sciences Centre, British Columbia Cancer Agency 0 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 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 Pediatrics, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 1 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 0 1

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