ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2322T>C (p.Thr774=)

dbSNP: rs770111990
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002319221 SCV001175998 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-06-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001469932 SCV001674021 likely benign Neurofibromatosis, type 1 2022-09-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001469932 SCV002559966 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV001469932 SCV002567753 likely benign Neurofibromatosis, type 1 2022-08-17 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.