Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467736 | SCV000545667 | uncertain significance | Familial cancer of breast | 2022-02-11 | 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. ClinVar contains an entry for this variant (Variation ID: 406795). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 558 of the BARD1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BARD1 protein. |
Ambry Genetics | RCV001012672 | SCV001173155 | likely benign | Hereditary cancer-predisposing syndrome | 2019-04-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Color Diagnostics, |
RCV001012672 | SCV004362644 | likely benign | Hereditary cancer-predisposing syndrome | 2022-12-05 | criteria provided, single submitter | clinical testing |