Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000494994 | SCV000578349 | 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/). |
Ambry Genetics | RCV000164921 | SCV000215609 | likely benign | Hereditary cancer-predisposing syndrome | 2014-06-24 | 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. |
Invitae | RCV000232043 | SCV000289739 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Brotman Baty Institute, |
RCV000494994 | SCV001237890 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |