ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile)

gnomAD frequency: 0.00005  dbSNP: rs372740994
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
Genetic Services Laboratory, University of Chicago RCV000502191 SCV000594438 likely benign not specified 2016-02-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000502191 SCV000613170 uncertain significance not specified 2017-05-03 criteria provided, single submitter clinical testing
Invitae RCV000649577 SCV000771406 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278852 SCV003957767 likely benign Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251969 SCV001427715 likely benign Intellectual disability 2019-01-01 no assertion criteria provided 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.