ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) (rs13749)

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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 RCV000116909 SCV000150996 benign not specified 2013-04-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116909 SCV000307845 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377353 SCV000385194 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 RCV000347200 SCV000385196 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 RCV000116909 SCV000539044 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
Ambry Genetics RCV000715440 SCV000846269 benign History of neurodevelopmental disorder 2016-01-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173229 SCV001336310 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV000347200 SCV001730409 benign Charcot-Marie-Tooth disease, axonal, type 2O 2020-12-04 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000347200 SCV001875820 benign Charcot-Marie-Tooth disease, axonal, type 2O 2021-07-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001657713 SCV001875821 benign Mental retardation, autosomal dominant 13 2021-07-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001657712 SCV001875822 benign Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001682807 SCV001897780 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000116909 SCV001918459 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000116909 SCV001959084 benign not specified no assertion criteria provided clinical testing

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