Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495447 | SCV000578216 | 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/). |
Gene |
RCV000436073 | SCV000519562 | likely benign | not specified | 2015-09-30 | 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. |
Invitae | RCV000472156 | SCV000560228 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-05-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000774934 | SCV000908996 | likely benign | Hereditary cancer-predisposing syndrome | 2018-07-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000774934 | SCV001185369 | likely benign | Hereditary cancer-predisposing syndrome | 2019-10-21 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002480296 | SCV002774109 | likely benign | not provided | 2023-08-03 | criteria provided, single submitter | clinical testing | |
Brotman Baty Institute, |
RCV000495447 | SCV001243987 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |