ClinVar Miner

Variants in gene SETX

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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
31 12 227 84 54 369

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 3 0 88 28 27 146
Amyotrophic Lateral Sclerosis, Dominant 0 0 52 41 12 105
Ataxia with Oculomotor Apraxia 0 0 52 40 12 104
not provided 12 8 49 11 24 98
not specified 0 0 49 17 30 88
Spinocerebellar ataxia autosomal recessive 1 15 2 3 0 0 20
Inborn genetic diseases 3 1 3 0 0 7
Amyotrophic lateral sclerosis type 4 4 1 0 0 0 5
Charcot-Marie-Tooth disease 0 0 3 0 0 3
Hereditary spastic paraplegia 0 0 3 0 0 3
Cerebellar ataxia; Nystagmus; Cerebellar atrophy; Dysmetria; Slurred speech; Dysdiadochokinesis; Slightly reduced reflexes 0 1 0 0 0 1
Distal spinal muscular atrophy 0 0 1 0 0 1
Dystonia; Mental deterioration 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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 0 86 28 26 143
Athena Diagnostics Inc 5 4 67 10 22 108
Illumina Clinical Services Laboratory,Illumina 0 0 54 41 12 107
PreventionGenetics 0 0 0 6 25 31
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 4 0 14 20
GeneDx 6 1 8 0 3 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 16 0 0 18
OMIM 14 0 0 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 0 9 14
Genetic Services Laboratory, University of Chicago 1 1 0 8 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 8 8
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
Baylor Miraca Genetics Laboratories, 2 1 1 0 0 4
Institute of Human Genetics,Cologne University 1 0 2 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
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

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