ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1451T>C (p.Met484Thr)

gnomAD frequency: 0.00082  dbSNP: rs141538143
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229917 SCV000284547 benign Neurofibromatosis, type 2 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571402 SCV000674132 likely benign Hereditary cancer-predisposing syndrome 2018-10-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mendelics RCV000229917 SCV000839525 benign Neurofibromatosis, type 2 2023-08-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000229917 SCV002045414 likely benign Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000571402 SCV002528183 likely benign Hereditary cancer-predisposing syndrome 2021-07-08 criteria provided, single submitter curation
ITMI RCV000121644 SCV000085842 not provided not specified 2013-09-19 no assertion provided reference population

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.