ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.8344-30G>A (rs2180510)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833383 SCV000975146 benign not provided 2018-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172922 SCV001335997 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001664467 SCV001875814 benign Charcot-Marie-Tooth disease, axonal, type 2O 2021-07-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001664468 SCV001875815 benign Mental retardation, autosomal dominant 13 2021-07-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001664466 SCV001875816 benign Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant 2021-07-30 criteria provided, single submitter clinical testing

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.