ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5610-4C>G

gnomAD frequency: 0.00001  dbSNP: rs1419030713
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692584 SCV000820414 likely benign Neurofibromatosis, type 1 2024-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319556 SCV001186243 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-03-04 criteria provided, single submitter clinical testing The c.5547-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 38 in the NF1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000692584 SCV002560889 uncertain significance Neurofibromatosis, type 1 2022-03-15 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.