Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000772826 | SCV000906208 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001398097 | SCV001599863 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478459 | SCV004219003 | uncertain significance | not provided | 2023-08-23 | 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 PMS2 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant. |