ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.951A>G (p.Glu317=) (rs1601636972)

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
Ambry Genetics RCV001019438 SCV001180796 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-21 criteria provided, single submitter clinical testing The c.951A>G variant (also known as p.E317E), located in coding exon 10, results from an A to G substitution at nucleotide position 951 of the NF2 gene. This nucleotide substitution does not change the amino acid at codon 317. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001414550 SCV001616689 likely benign Neurofibromatosis, type 2 2019-10-20 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.