Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002672199 | SCV002999092 | uncertain significance | Fanconi anemia | 2022-04-24 | criteria provided, single submitter | clinical testing | 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. This variant has not been reported in the literature in individuals affected with FANCI-related conditions. This sequence change falls in intron 30 of the FANCI gene. It does not directly change the encoded amino acid sequence of the FANCI protein. This variant is not present in population databases (gnomAD no frequency). |