ClinVar Miner

Variants in gene SETX

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 total
36 18 279 149 72 480

Condition and significance breakdown #

Total conditions: 18
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 13 12 83 91 54 226
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 3 0 103 13 3 122
Amyotrophic Lateral Sclerosis, Dominant 0 0 52 41 12 105
Ataxia with Oculomotor Apraxia 0 0 52 40 12 104
not specified 0 0 50 18 31 91
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 19 2 4 0 0 25
Amyotrophic lateral sclerosis type 4 4 2 2 0 3 11
Charcot-Marie-Tooth disease 0 0 8 0 0 8
Inborn genetic diseases 3 1 3 0 0 7
Distal spinal muscular atrophy 0 0 4 0 0 4
Hereditary spastic paraplegia 0 0 3 0 0 3
Autosomal dominant distal hereditary motor neuropathy 0 0 1 0 0 1
Cerebellar ataxia 1 0 0 0 0 1
Cerebellar ataxia; Nystagmus; Cerebellar atrophy; Dysmetria; Slurred speech; Dysdiadochokinesis; Slightly reduced reflexes 0 1 0 0 0 1
Dystonia; Mental deterioration 0 0 1 0 0 1
Genetic motor neuron disease 0 0 1 0 0 1
Proximal spinal muscular atrophy 0 0 1 0 0 1
SETX-Related Disorders 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 0 100 88 30 221
Athena Diagnostics Inc 5 7 89 19 42 162
Illumina Clinical Services Laboratory,Illumina 0 0 54 41 12 107
PreventionGenetics,PreventionGenetics 0 0 0 6 25 31
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 27 0 0 29
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 10 2 11 23
GeneDx 6 2 8 1 3 20
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 4 0 14 20
OMIM 14 0 0 0 0 14
Genetic Services Laboratory, University of Chicago 1 1 0 8 0 10
Inherited Neuropathy Consortium 0 0 10 0 0 10
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 8 8
Fulgent Genetics,Fulgent Genetics 0 0 8 0 0 8
Northcott Neuroscience Laboratory, ANZAC Research Institute 1 1 0 2 4 8
Ambry Genetics 3 1 3 0 0 7
Mendelics 1 2 0 0 3 6
Baylor Genetics 2 1 1 0 0 4
Institute of Human Genetics,Cologne University 1 0 2 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 3 0 0 3
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 3 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.