ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6819+4C>A

dbSNP: rs755135948
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 RCV002363539 SCV001187839 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-03-20 criteria provided, single submitter clinical testing The c.6756+4C>A intronic variant results from a C to A substitution 4 nucleotides after coding exon 44 in the NF1 gene. This nucleotide position is 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.