ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.-179G>A

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 RCV003803760 SCV004593927 uncertain significance Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2023-09-05 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 FTL-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant occurs in a non-coding region of the FTL gene. It does not change the encoded amino acid sequence of the FTL 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.