Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495376 | SCV000578270 | 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/). |
Laboratory of Molecular Diagnosis of Cancer, |
RCV000240772 | SCV000265891 | uncertain significance | Breast neoplasm | 2015-11-01 | criteria provided, single submitter | research | |
Ambry Genetics | RCV000563956 | SCV000665842 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-05 | 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. |
Invitae | RCV000686228 | SCV000813737 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000842427 | SCV000984447 | likely benign | not provided | 2018-04-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV000563956 | SCV001354412 | likely benign | Hereditary cancer-predisposing syndrome | 2019-10-01 | criteria provided, single submitter | clinical testing |