ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.628T>C (p.Leu210=)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002806904 SCV003200128 uncertain significance Fanconi anemia 2022-05-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with FANCF-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 210 of the FANCF mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FANCF protein.

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.