ClinVar Miner

Submissions for variant NM_016418.5(NF2):c.448-5T>C (rs878853928)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230765 SCV000284553 likely benign Neurofibromatosis, type 2 2020-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022560 SCV001184313 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-24 criteria provided, single submitter clinical testing The c.448-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 5 in the NF2 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 acceptor 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.