ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)

gnomAD frequency: 0.00008  dbSNP: rs201824349
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079427 SCV000259332 likely benign Neurofibromatosis, type 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000034591 SCV000723561 likely benign not provided 2020-09-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22703879)
Sema4, Sema4 RCV000130727 SCV002528139 benign Hereditary cancer-predisposing syndrome 2021-01-29 criteria provided, single submitter curation
Ambry Genetics RCV002415459 SCV002677501 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-11-03 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.
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000130727 SCV004228087 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549403 SCV004725179 likely benign NF1-related disorder 2024-01-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034591 SCV000043395 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000501885 SCV000595979 uncertain significance not specified 2017-06-14 flagged submission clinical testing
Fulgent Genetics, Fulgent Genetics RCV000515212 SCV000611410 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2017-05-23 flagged submission 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.