ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.54A>G (p.Ser18=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003637687 SCV004435140 uncertain significance Fanconi anemia 2023-03-01 criteria provided, single submitter clinical testing This sequence change affects codon 18 of the FANCF mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FANCF protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCF-related conditions. 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.

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