ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)

gnomAD frequency: 0.00002  dbSNP: rs902739109
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535878 SCV000628513 benign Neurofibromatosis, type 1 2025-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314930 SCV000663240 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-02-13 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.
Genetic Services Laboratory, University of Chicago RCV001821508 SCV002067201 uncertain significance not specified 2018-07-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563538 SCV002527504 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-18 criteria provided, single submitter curation
Genome-Nilou Lab RCV000535878 SCV002560289 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV002286748 SCV002577262 likely benign not provided 2022-09-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV002483371 SCV002786334 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-11-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002286748 SCV005624569 uncertain significance not provided 2024-01-29 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.