ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4074+5A>G

dbSNP: rs1567005739
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316845 SCV000850616 uncertain significance Inborn genetic diseases 2017-04-18 criteria provided, single submitter clinical testing The c.4074+5A>G intronic variant results from an A to G substitution 5 nucleotides after coding exon 18 in the DYNC1H1 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.