ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.783C>T (p.Ile261=) (rs765223726)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467454 SCV000563476 likely benign Neurofibromatosis, type 2 2020-10-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568807 SCV000674123 likely benign Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV001531543 SCV001746735 likely benign not provided 2021-03-01 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.