ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6366A>G (p.Thr2122=)

dbSNP: rs876657547
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218419 SCV000270625 likely benign not specified 2015-12-17 criteria provided, single submitter clinical testing p.Thr2122Thr in exon of 42 of NF1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV001441436 SCV001644367 likely benign Neurofibromatosis, type 1 2024-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001441436 SCV002561210 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363063 SCV002660571 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-12-02 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.

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.