ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.904-9_904-7del

dbSNP: rs757041554
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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 RCV000692656 SCV000820490 uncertain significance Fanconi anemia 2021-08-24 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the FANCL gene. It does not directly change the encoded amino acid sequence of the FANCL protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with FANCL-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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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