ClinVar Miner

Variants in gene DCTN1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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 risk factor not provided total
10 0 123 58 29 4 1 200

Condition and significance breakdown #

Total conditions: 12
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Condition 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 80 30 21 0 0 132
Perry syndrome 9 22 26 2 0 0 59
Distal hereditary motor neuronopathy 0 22 25 2 0 0 49
not provided 0 28 1 8 0 0 36
not specified 0 1 5 13 0 0 19
Amyotrophic lateral sclerosis, susceptibility to 0 0 0 0 4 0 4
Charcot-Marie-Tooth disease 0 3 0 0 0 0 3
Genetic motor neuron disease 0 2 0 0 0 0 2
DCTN1-Related Disorder 0 0 0 0 0 1 1
DCTN1-Related Disorders 0 1 0 0 0 0 1
Distal hereditary motor neuronopathy type 7B 1 0 0 0 0 0 1
Dystonia; Generalized dystonia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1 79 30 21 0 0 131
Illumina Clinical Services Laboratory,Illumina 0 23 26 2 0 0 51
Athena Diagnostics Inc 0 4 4 9 0 0 17
PreventionGenetics 0 0 2 9 0 0 11
GeneReviews 10 0 0 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 10 0 0 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 6 1 2 0 0 9
OMIM 4 0 0 0 4 0 8
GeneDx 0 8 0 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 4 0 0 5
Inherited Neuropathy Consortium 0 4 0 0 0 0 4
Fulgent Genetics 0 3 0 0 0 0 3
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 1 0 0 0 0 1

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