Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001893310 | SCV002165724 | uncertain significance | Bardet-Biedl syndrome | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 8 of the BBS2 gene. It does not directly change the encoded amino acid sequence of the BBS2 protein. This variant is present in population databases (rs760109919, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1391874). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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. |
Fulgent Genetics, |
RCV002482720 | SCV002776242 | uncertain significance | Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 | 2022-03-09 | criteria provided, single submitter | clinical testing |