ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.289-4T>G

gnomAD frequency: 0.00001  dbSNP: rs1258767746
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000936453 SCV001082221 likely benign Neurofibromatosis, type 1 2024-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319602 SCV001177836 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-01-21 criteria provided, single submitter clinical testing The c.289-4T>G intronic alteration consists of a T to G substitution 4 nucleotides before coding exon 4 in the NF1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.