ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13372+9G>A (rs1004903)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116912 SCV000150999 benign not specified 2013-04-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116912 SCV000307846 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350794 SCV000385216 benign Autosomal dominant cerebellar ataxia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000398631 SCV000385217 benign Charcot-Marie-Tooth disease, axonal, type 2O 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000116912 SCV000539045 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Athena Diagnostics Inc RCV000711524 SCV000841902 benign not provided 2017-11-16 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173232 SCV001336313 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV000398631 SCV001730779 benign Charcot-Marie-Tooth disease, axonal, type 2O 2020-12-03 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000398631 SCV001875824 benign Charcot-Marie-Tooth disease, axonal, type 2O 2021-07-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001657715 SCV001875825 benign Mental retardation, autosomal dominant 13 2021-07-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001657714 SCV001875826 benign Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000711524 SCV001907805 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000116912 SCV001924055 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000116912 SCV001953857 benign not specified no assertion criteria provided clinical testing

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