Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495276 | SCV000577989 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0021 (Admixed American/Latino), derived from ExAC (2014-12-17). |
Ambry Genetics | RCV000166931 | SCV000217750 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-30 | 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 | RCV000471051 | SCV000560208 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001707547 | SCV000724394 | likely benign | not provided | 2018-11-30 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000495276 | SCV001140554 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2019-05-28 | criteria provided, single submitter | clinical testing |