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
262 187 3295 3363 266 1 76 6672

Condition and significance breakdown #

Total conditions: 73
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Rhabdoid tumor predisposition syndrome 2 153 73 2330 2585 116 0 1 5236
Hereditary cancer-predisposing syndrome 81 29 1784 1758 115 0 0 3650
not provided 31 24 491 359 133 0 11 977
Intellectual disability, autosomal dominant 16 16 35 486 62 81 0 0 664
SMARCA4-related disorder 2 7 55 144 3 0 0 211
not specified 0 0 44 95 60 0 17 193
Coffin-Siris syndrome 1 1 1 2 74 0 0 79
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 3 29 17 0 0 4 51
Medulloblastoma WNT activated 19 2 0 0 0 0 0 21
Neoplasm 0 8 4 0 0 0 0 12
SMARCA4-related BAFopathy 1 9 1 0 0 0 0 11
Hereditary nonpolyposis colon cancer 0 0 1 3 5 0 0 9
Medulloblastoma non-WNT/non-SHH group 3 8 1 0 0 0 0 0 9
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 8 8
Intellectual disability 2 0 4 1 0 0 0 7
Lung cancer 0 0 0 0 0 0 7 7
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 7 7
Neuroblastoma 0 6 0 0 0 0 0 6
Acute myeloid leukemia 0 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 0 5 5
Inborn genetic diseases 2 1 2 0 0 0 0 5
Medulloblastoma non-WNT/non-SHH 5 0 0 0 0 0 0 5
Thymoma 0 0 0 0 0 0 5 5
Clear cell carcinoma of kidney 0 0 0 0 0 0 4 4
Melanoma 0 0 0 0 0 0 4 4
Glioma susceptibility 1 0 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 0 3 3
Sarcoma 0 0 0 0 0 0 3 3
See cases 0 1 2 0 0 0 0 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 3 3
Anophthalmia-microphthalmia syndrome 1 1 0 0 0 0 0 2
Cervical cancer 0 0 0 0 0 0 2 2
Coffin-Siris syndrome; Small cell carcinoma of the ovary, hypercalcemic type 0 0 0 0 0 0 2 2
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 2 0 0 0 0 0 2
Familial cancer of breast 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
Malignant tumor of breast 0 0 1 0 1 0 0 2
Medulloblastoma SHH activated and TP53 wild-type 0 2 0 0 0 0 0 2
Microcephaly 0 0 2 0 0 0 0 2
Nasopharyngeal carcinoma 0 2 0 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
Alveolar rhabdomyosarcoma 0 1 0 0 0 0 0 1
Astrocytoma IDH-mutant 0 1 0 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
Colon adenocarcinoma 0 0 0 0 0 0 1 1
Diffuse midline glioma, H3 K27-altered 0 0 1 0 0 0 0 1
Diffuse midline glioma, H3 K27M-mutant 0 1 0 0 0 0 0 1
Embryonal rhabdomyosarcoma 0 1 0 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
Hepatocellular carcinoma 0 0 0 0 0 0 1 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 esophagus 0 0 0 0 0 0 1 1
Medulloblastoma 0 0 0 0 0 1 0 1
Medulloblastoma SHH activated 0 1 0 0 0 0 0 1
Medulloblastoma non-WNT/non-SHH group 4 1 0 0 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 1 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
Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16; Small cell carcinoma of the ovary, hypercalcemic type 0 0 0 0 0 0 1 1
Seizure 0 1 0 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 0 1 1
bilateral breast cancer 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 108
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 139 51 2296 2585 116 0 0 5187
Ambry Genetics 83 29 1714 1737 42 0 0 3605
GeneDx 25 18 362 184 74 0 0 663
Genome-Nilou Lab 0 4 458 61 81 0 0 604
Sema4, Sema4 0 1 90 135 74 0 0 300
Quest Diagnostics Nichols Institute San Juan Capistrano 3 0 132 75 88 0 0 298
CeGaT Center for Human Genetics Tuebingen 4 5 31 184 11 0 0 235
Baylor Genetics 4 16 215 0 0 0 0 234
PreventionGenetics, part of Exact Sciences 2 6 55 144 10 0 0 217
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
Illumina Laboratory Services, Illumina 0 3 3 2 74 0 0 82
Fulgent Genetics, Fulgent Genetics 1 0 60 17 0 0 0 78
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 9 27 20 0 0 56
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 28 25 1 0 0 0 0 47
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 43 43
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 2 24 2 0 0 0 30
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 15 0 0 0 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 10 4 0 0 0 15
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 6 5 0 0 14
OMIM 13 0 0 0 0 0 0 13
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 8 4 0 0 0 0 12
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 8 0 0 12
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 8 3 0 0 12
Mendelics 2 0 5 4 1 0 0 12
3billion 4 3 3 0 0 0 0 10
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
GeneKor MSA 0 0 0 0 8 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 5 2 0 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 2 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 7 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 4 0 0 0 0 7
Daryl Scott Lab, Baylor College of Medicine 1 5 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 2 0 0 6
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 0 3 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 1 0 0 0 5
Eurofins Ntd Llc (ga) 0 0 2 1 2 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 4 0 0 0 5
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 5 5
Myriad Genetics, Inc. 2 0 0 1 2 0 0 5
New York Genome Center 0 0 5 0 0 0 0 5
UniProtKB/Swiss-Prot 0 0 0 0 0 0 5 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 2 1 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 1 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 3 0 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 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
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 0 1 0 2 0 0 3
Center of Medical Genetics and Primary Health Care 0 0 1 0 1 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 1 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 0 2
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 1 0 2
Genetics Department, University Hospital of Toulouse 1 1 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 2 0 0 0 0 0 2
Molecular Pathology, Peter Maccallum Cancer Centre 1 0 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 0 2
Athena Diagnostics 0 1 0 0 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 0 1
Cancer Genomics Laboratory, Texas Children's Hospital 1 0 0 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
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 0 1
Children's Hospital of Wisconsin Genetics Clinic, Medical College of Wisconsin 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
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 0 1
Dasa 0 0 0 0 1 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 1 0 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 1 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Helix 0 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 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
Institute of Human Genetics, Heidelberg University 1 0 0 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
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 0 0 1 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 0 0 1
Plataforma de Genómica Funcional - SJD, Institut De Recerca Sant Joan De Déu 1 0 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
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 0 1

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