ClinVar Miner

Variants in gene SZT2

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
146 75 1741 1588 115 78 3553

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 117 49 1497 1531 111 1 3220
Inborn genetic diseases 7 0 558 159 23 0 747
Developmental and epileptic encephalopathy, 18 21 31 394 139 51 13 633
not specified 0 0 59 43 33 0 128
SZT2-related disorder 0 5 10 55 8 0 78
Ovarian serous cystadenocarcinoma 0 0 0 0 0 14 14
Self-limited epilepsy with centrotemporal spikes 11 0 0 0 0 0 11
Familial cancer of breast 0 0 0 0 0 7 7
Malignant tumor of esophagus 0 0 0 0 0 7 7
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Lung cancer 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 3 3
See cases 1 0 2 0 0 0 3
Cervical cancer 0 0 0 0 0 2 2
Developmental and epileptic encephalopathy 0 0 2 0 0 0 2
Encephalocele; Severe hydrocephalus 0 0 2 0 0 0 2
Familial pancreatic carcinoma 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
Seizure 0 1 1 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 1 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Developmental and epileptic encephalopathy, 1 0 0 1 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hereditary spherocytosis type 3 0 1 0 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Meier-Gorlin syndrome 1 0 1 0 0 0 0 1
Melanoma 0 0 0 0 0 1 1
Obesity; Global developmental delay; Generalized epilepsy 0 0 1 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 112 29 1362 1422 81 0 3006
Ambry Genetics 7 0 559 159 23 0 748
GeneDx 5 19 336 128 61 0 549
Genome-Nilou Lab 4 11 332 128 48 0 523
CeGaT Center for Human Genetics Tuebingen 3 2 46 102 1 0 154
PreventionGenetics, part of Exact Sciences 0 5 10 58 24 0 97
Breakthrough Genomics, Breakthrough Genomics 0 0 12 42 37 0 91
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 44 32 1 0 78
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 64 64
Athena Diagnostics 0 0 24 8 26 0 58
Mayo Clinic Laboratories, Mayo Clinic 0 0 29 8 21 0 58
Revvity Omics, Revvity 0 3 32 1 0 0 36
Baylor Genetics 0 1 24 0 0 0 25
Fulgent Genetics, Fulgent Genetics 0 1 16 8 0 0 25
Genetic Services Laboratory, University of Chicago 1 2 13 4 1 0 21
New York Genome Center 0 2 19 0 0 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 10 4 0 19
OMIM 12 0 1 0 0 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 11 1 0 12
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 11 0 0 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 11 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 2 1 8 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 0 4 7 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 7 1 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 7 0 0 0 9
3billion 1 1 3 2 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 5 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 1 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 3 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 5 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 3 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 1 0 3
Eurofins Ntd Llc (ga) 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 2 0 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 0 0 2 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 2 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Faculty of Engineering and Natural Sciences, Biruni University 0 1 1 0 0 0 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 0 2
Institute for Biomedicine, Eurac Research 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Variantyx, Inc. 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Dasa 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 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 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1

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