Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112409 | SCV000578236 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/). |
Color Diagnostics, |
RCV001176275 | SCV001340169 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001495911 | SCV001700601 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-07-18 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001176275 | SCV002537787 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-19 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV001176275 | SCV002634048 | likely benign | Hereditary cancer-predisposing syndrome | 2015-10-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Breast Cancer Information Core |
RCV000112409 | SCV000145192 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 1998-08-26 | no assertion criteria provided | clinical testing |