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
43 25 427 153 112 640

Condition and significance breakdown #

Total conditions: 21
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 6 1 173 57 31 266
not provided 17 16 105 56 41 225
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 20 2 143 18 40 223
Amyotrophic lateral sclerosis type 4 4 2 107 32 60 204
not specified 0 0 48 19 41 98
none provided 0 0 5 2 14 21
Charcot-Marie-Tooth disease 0 0 8 0 0 8
Inborn genetic diseases 3 1 4 0 0 8
Amyotrophic Lateral Sclerosis, Dominant 0 0 4 1 1 6
Ataxia with Oculomotor Apraxia 0 0 4 1 1 6
Amyotrophic lateral sclerosis 0 1 4 0 0 5
Distal spinal muscular atrophy 0 0 4 0 0 4
Ataxia-oculomotor apraxia type 1 0 1 2 0 0 3
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
Hereditary 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: 36
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 1 170 90 30 297
Illumina Clinical Services Laboratory,Illumina 1 0 141 47 59 200
Athena Diagnostics Inc 5 11 105 20 54 195
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 32 3 0 39
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 14 4 17 35
PreventionGenetics,PreventionGenetics 0 0 0 6 25 31
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
Ambry Genetics 3 1 4 0 0 8
Fulgent Genetics,Fulgent Genetics 0 0 8 0 0 8
Northcott Neuroscience Laboratory, ANZAC Research Institute 1 1 0 2 4 8
Mendelics 1 2 0 0 3 6
Baylor Genetics 2 1 1 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 1 1 4
ALS/MND Lab,University of Malta 0 1 3 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
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 2 0 0 3
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory,Koc University 0 0 2 1 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 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.