Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163496 | SCV000214054 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-02 | 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 |
RCV000486987 | SCV000566640 | likely benign | not provided | 2020-08-27 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 28779002) |
Labcorp Genetics |
RCV000635758 | SCV000757180 | likely benign | Familial cancer of breast | 2025-01-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000635758 | SCV000785974 | likely benign | Familial cancer of breast | 2018-01-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163496 | SCV000906473 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-27 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781696 | SCV000919952 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000635758 | SCV004019141 | benign | Familial cancer of breast | 2023-03-30 | 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. |