Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000735052 | SCV000863241 | uncertain significance | not provided | 2018-09-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002535414 | SCV003466505 | uncertain significance | RASopathy | 2022-03-11 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 598618). This variant has not been reported in the literature in individuals affected with BRAF-related conditions. This variant is present in population databases (rs569455230, gnomAD 0.006%). This sequence change affects codon 439 of the BRAF mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRAF protein. 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. |