ClinVar Miner

Variants in gene SZT2

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Minimum submission review status: Collection method:
Minimum conflict level:
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
17 6 127 78 45 1 250

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Seizures 0 0 56 54 20 0 130
not specified 0 0 42 25 40 0 102
not provided 3 4 30 8 13 0 58
Early infantile epileptic encephalopathy 18 3 1 12 0 0 1 17
Rolandic epilepsy 11 0 0 0 0 0 11
Inborn genetic diseases 0 0 3 0 0 0 3
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
Epileptic encephalopathy, early infantile, 1 0 0 1 0 0 0 1
Obesity; Global developmental delay; Generalized epilepsy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 0 0 59 54 20 0 133
Invitae 0 0 29 19 32 0 80
Athena Diagnostics Inc 0 0 9 2 14 0 25
PreventionGenetics 0 0 0 3 16 0 19
GeneDx 3 4 8 2 0 0 17
Genetic Services Laboratory, University of Chicago 0 1 12 1 0 0 14
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 11 0 0 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 2 0 0 9
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
OMIM 3 0 1 0 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 0 0 0 3
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 2 0 0 0 0 2
Institute for Biomedicine,Eurac Research 0 0 2 0 0 0 2
Claritas Genomics 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The 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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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

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