Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474839 | SCV000560234 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000580379 | SCV000683113 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000580379 | SCV002613275 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323557 | SCV004029053 | likely benign | not specified | 2023-07-02 | criteria provided, single submitter | clinical testing |