Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001899312 | SCV002131389 | uncertain significance | Fanconi anemia | 2020-11-27 | 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 SLX4-related conditions. This variant is present in population databases (rs569225834, ExAC 0.009%). This sequence change affects codon 1736 of the SLX4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SLX4 protein. |
Fulgent Genetics, |
RCV002503440 | SCV002806899 | uncertain significance | Fanconi anemia complementation group P | 2022-01-26 | criteria provided, single submitter | clinical testing |