Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001469206 | SCV001673280 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 4 | 2024-07-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001804966 | SCV002052150 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-29 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV004998525 | SCV005623981 | uncertain significance | not provided | 2024-02-14 | criteria provided, single submitter | clinical testing | The RAD51D c.346-9C>A variant has not been reported in individuals with RAD51D-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on RAD51D mRNA splicing yielded inconclusive findings. Based on the available information, we are unable to determine the clinical significance of this variant. |