Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495539 | SCV000578365 | 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 | RCV000221155 | SCV000278286 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-02 | 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. |
Color Diagnostics, |
RCV000221155 | SCV000683060 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000953876 | SCV001100472 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284537 | SCV001470377 | likely benign | not provided | 2019-09-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001284537 | SCV001888185 | likely benign | not provided | 2019-10-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21165771) |