ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.-19C>T

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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 RCV003074474 SCV003453067 uncertain significance Fanconi anemia 2022-06-25 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the FANCC gene. It does not change the encoded amino acid sequence of the FANCC protein. This variant is present in population databases (rs772475410, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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