Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165810 | SCV000216557 | likely benign | Hereditary cancer-predisposing syndrome | 2014-09-22 | 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. |
Gene |
RCV001610474 | SCV001837881 | likely benign | not provided | 2019-06-25 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002053979 | SCV002375272 | likely benign | Familial cancer of breast | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003320583 | SCV004024836 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001610474 | SCV004151312 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | BARD1: PM2:Supporting, BP4, BP7 |
Myriad Genetics, |
RCV002053979 | SCV005403876 | benign | Familial cancer of breast | 2024-07-30 | 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. |