Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004564277 | SCV000815962 | likely benign | Familial adenomatous polyposis 1 | 2025-01-29 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001022127 | SCV001183825 | likely benign | Hereditary cancer-predisposing syndrome | 2019-06-09 | 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478406 | SCV004219383 | uncertain significance | not provided | 2023-02-01 | 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 splicing yielded predictions that this variant does not affect APC mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant. |
| Myriad Genetics, |
RCV004564277 | SCV004930628 | benign | Familial adenomatous polyposis 1 | 2024-03-26 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |