Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000473462 | SCV000551124 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568053 | SCV000662403 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-27 | 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, |
RCV000568053 | SCV000903795 | likely benign | Hereditary cancer-predisposing syndrome | 2015-10-26 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985853 | SCV001134459 | uncertain significance | not provided | 2023-06-20 | criteria provided, single submitter | clinical testing | In the published literature, this variant has been reported in an individual with endometrial cancer (PMID: 34115236 (2021)). The frequency of this variant in the general population, 0.000011 (3/282552 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |
Genetic Services Laboratory, |
RCV001821283 | SCV002068661 | uncertain significance | not specified | 2019-03-04 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000568053 | SCV002536362 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-18 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV004001830 | SCV004834834 | likely benign | Lynch syndrome | 2023-05-16 | criteria provided, single submitter | clinical testing |