Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000777674 | SCV000913591 | likely benign | Hereditary cancer-predisposing syndrome | 2022-04-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001417518 | SCV001619722 | likely benign | Familial cancer of breast | 2021-12-17 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478480 | SCV004221753 | uncertain significance | not provided | 2023-06-26 | criteria provided, single submitter | clinical testing | To the best of our knowledge, this variant has not been reported 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 splicing yielded predictions that this variant does not affect CHEK2 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant. |