ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.883-4C>G

dbSNP: rs2053277160
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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 RCV001246059 SCV001419390 uncertain significance Fanconi anemia 2019-11-12 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with FANCI-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 10 of the FANCI gene. It does not directly change the encoded amino acid sequence of the FANCI protein.

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