Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000533313 | SCV000625666 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000584595 | SCV000691082 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001683553 | SCV001898069 | likely benign | not provided | 2019-03-14 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000584595 | SCV002530354 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-19 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001683553 | SCV002774692 | uncertain significance | not provided | 2022-09-15 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on PMS2 mRNA splicing yielded inconclusive findings . Based on the available information, we are unable to determine the clinical significance of this variant. |