ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.-79+2dup

dbSNP: rs2136457021
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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 RCV001926209 SCV002189523 uncertain significance Fanconi anemia 2021-10-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FANCC-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt splicing. 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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