ClinVar Miner

Variants in gene SZT2

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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 not provided total
56 23 904 384 60 3 1365

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 31 17 849 354 54 0 1289
Seizures 0 0 59 54 21 0 134
Early infantile epileptic encephalopathy 18 12 6 41 0 1 3 61
not specified 0 0 22 6 18 0 44
Rolandic epilepsy 11 0 0 0 0 0 11
Inborn genetic diseases 2 0 5 0 0 0 7
Cryptorchidism; Global developmental delay; Seizures; Abnormality of the anterior fontanelle; Macrocephalus; Deep plantar creases; Abnormality of the cerebral white matter; Central hypotonia 0 2 0 0 0 0 2
Encephalocele; Severe hydrocephalus 0 0 2 0 0 0 2
Epileptic encephalopathy, early infantile, 1 0 0 1 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Obesity; Global developmental delay; Generalized epilepsy 0 0 1 0 0 0 1
See cases 1 0 0 0 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 27 9 822 342 51 0 1251
Ambry Genetics 2 0 60 54 21 0 137
Athena Diagnostics Inc 0 0 15 4 22 0 41
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 24 13 0 0 39
Baylor Genetics 0 1 23 0 0 0 24
PreventionGenetics, PreventionGenetics 0 0 0 3 16 0 19
GeneDx 3 5 8 2 0 0 18
Genetic Services Laboratory, University of Chicago 0 1 12 1 0 0 14
OMIM 12 0 1 0 0 0 13
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 11 0 0 0 0 0 11
New York Genome Center 0 2 7 0 0 0 9
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 5 0 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 1 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 2 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 2 0 0 0 0 2
Institute for Biomedicine,Eurac Research 0 2 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 0 0 2 0 0 0 2
Claritas Genomics 0 0 1 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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1

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