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 3 306 144 63 4 2 484

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 0 240 98 32 0 0 371
Perry syndrome 9 0 32 10 43 0 0 94
not provided 0 0 48 40 8 0 0 93
Distal hereditary motor neuronopathy type 7B 1 0 38 15 35 0 0 89
not specified 0 0 1 6 14 0 0 21
none provided 0 0 1 6 5 0 0 12
Amyotrophic lateral sclerosis 0 1 4 0 2 0 0 7
Amyotrophic lateral sclerosis type 1 0 0 3 0 1 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
Hereditary 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
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: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1 0 240 122 32 0 0 395
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 8 4 15 0 0 27
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 6 6 0 0 14
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
GeneDx 0 0 8 0 0 0 0 8
Inherited Neuropathy Consortium 0 2 4 0 0 0 0 6
Baylor Genetics 0 0 5 0 0 0 0 5
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
ALS/MND Lab,University of Malta 0 1 2 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
Clinical Genetics laboratory, 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
Institute of Human Genetics, University of Leipzig Medical Center 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.