ClinVar Miner

Variants in gene SMARCA4

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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
208 139 3015 3143 251 1 32 6114

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Rhabdoid tumor predisposition syndrome 2 138 57 2180 2463 116 0 0 4936
Hereditary cancer-predisposing syndrome 67 23 1541 1591 111 0 0 3217
not provided 28 22 425 251 135 0 11 807
Intellectual disability, autosomal dominant 16 13 32 480 61 81 0 0 653
SMARCA4-related disorder 2 7 55 144 3 0 0 211
not specified 0 0 41 84 39 0 17 163
Coffin-Siris syndrome 1 0 14 4 74 0 0 93
Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16; Otosclerosis 12 1 0 37 8 6 0 0 52
Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 0 2 29 17 0 0 1 49
SMARCA4-related BAFopathy 1 9 1 0 0 0 0 11
Hereditary nonpolyposis colon cancer 0 0 1 3 5 0 0 9
Inborn genetic diseases 3 1 2 0 0 0 0 6
See cases 0 1 2 0 0 0 0 3
Coffin-Siris syndrome; Small cell carcinoma of the ovary, hypercalcemic type 0 0 0 0 0 0 2 2
Global developmental delay 0 1 1 0 0 0 0 2
Hereditary cancer 0 0 2 0 0 0 0 2
Intellectual disability 0 0 1 1 0 0 0 2
Malignant tumor of breast 0 0 1 0 1 0 0 2
Microcephaly 0 0 2 0 0 0 0 2
Neurodevelopmental disorder 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
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-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
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
Otosclerosis 12 1 0 0 0 0 0 0 1
Ovarian neoplasm 0 0 0 0 1 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: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 126 45 2147 2464 116 0 0 4898
Ambry Genetics 70 23 1472 1569 42 0 0 3176
GeneDx 23 18 327 184 74 0 0 626
Genome-Nilou Lab 0 4 458 61 81 0 0 604
Sema4, Sema4 0 1 90 135 74 0 0 300
Baylor Genetics 4 16 215 0 0 0 0 234
PreventionGenetics, part of Exact Sciences 2 6 55 144 10 0 0 217
Quest Diagnostics Nichols Institute San Juan Capistrano 2 0 84 34 70 0 0 190
CeGaT Center for Human Genetics Tuebingen 4 3 27 105 10 0 0 149
Illumina Laboratory Services, Illumina 0 3 16 4 74 0 0 97
Breakthrough Genomics, Breakthrough Genomics 0 0 4 36 44 0 0 84
Genetic Services Laboratory, University of Chicago 3 3 31 29 17 0 0 83
Fulgent Genetics, Fulgent Genetics 1 0 60 17 0 0 0 78
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 17 17 0 0 41
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 11 13 0 0 32
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 1 18 2 0 0 0 23
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
Revvity Omics, Revvity 1 1 13 0 0 0 0 15
OMIM 13 0 0 0 0 0 0 13
Mendelics 2 0 5 4 1 0 0 12
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 8 0 0 12
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 7 2 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 8 1 0 0 0 9
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 3 0 0 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
Daryl Scott Lab, Baylor College of Medicine 1 4 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 2 0 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
3billion 1 3 1 0 0 0 0 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 2 1 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
Mayo Clinic Laboratories, Mayo Clinic 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
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 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 Centre For Genomic Medicine, NCGM 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 0 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 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
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 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
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 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 Laboratory, 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
Neurogenetics and Molecular Medicine Laboratory, Institut De Recerca Sant Joan De Déu 1 0 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 0 1

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