Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495020 | SCV000578043 | 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 |
RCV000159888 | SCV000209972 | benign | not specified | 2014-08-11 | 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. |
Ambry Genetics | RCV000167202 | SCV000218039 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-11 | 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 | RCV001087234 | SCV000560218 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758828 | SCV000887693 | likely benign | not provided | 2017-12-15 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000167202 | SCV000909026 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-20 | criteria provided, single submitter | clinical testing |