ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) (rs17541179)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116922 SCV000307854 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333097 SCV000385104 likely benign Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389839 SCV000385105 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288560 SCV000385106 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464728 SCV000559798 benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715830 SCV000846661 benign History of neurodevelopmental disorder 2016-03-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116922 SCV000151009 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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.