ClinVar Miner

Variants in gene DCTN1

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 risk factor not provided total
10 2 263 108 63 4 2 407

Condition and significance breakdown #

Total conditions: 15
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Amyotrophic lateral sclerosis type 1; Perry syndrome; Distal hereditary motor neuronopathy type 7B 1 0 199 52 32 0 0 284
Perry syndrome 9 0 31 10 43 0 0 93
not provided 0 0 46 39 8 0 0 90
Distal hereditary motor neuronopathy type 7B 1 0 33 15 35 0 0 84
not specified 0 0 1 7 15 0 0 23
Amyotrophic lateral sclerosis 0 0 2 0 2 0 0 4
Amyotrophic lateral sclerosis, susceptibility to 0 0 0 0 0 4 0 4
Charcot-Marie-Tooth disease 0 1 3 0 0 0 0 4
Amyotrophic lateral sclerosis type 1 0 0 2 0 1 0 0 3
Genetic motor neuron disease 0 1 2 0 0 0 0 3
DCTN1-Related Disorder 0 0 0 0 0 0 2 2
Distal hereditary motor neuronopathy 0 0 2 0 0 0 0 2
Cerebellar ataxia; Visual impairment; Spasticity; Iron accumulation in brain 0 0 1 0 0 0 0 1
DCTN1-Related Disorders 0 0 1 0 0 0 0 1
Dystonia; Generalized dystonia 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1 0 199 88 32 0 0 320
Illumina Clinical Services Laboratory,Illumina 0 0 35 18 43 0 0 85
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 26 2 0 0 0 28
Athena Diagnostics Inc 0 0 6 3 11 0 0 20
PreventionGenetics,PreventionGenetics 0 0 0 2 9 0 0 11
GeneReviews 10 0 0 0 0 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 6 1 2 0 0 9
OMIM 4 0 0 0 0 4 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 6 0 0 8
GeneDx 0 0 8 0 0 0 0 8
Inherited Neuropathy Consortium 0 2 4 0 0 0 0 6
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory,Koc University 0 0 2 1 2 0 0 5
Mendelics 0 0 2 0 1 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 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.