Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000494830 | SCV000578386 | 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/). |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000204925 | SCV001133481 | likely benign | not provided | 2018-10-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001503642 | SCV001708498 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-06-14 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257507 | SCV002538010 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-14 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002257507 | SCV002695484 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-22 | 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. |