Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000937750 | SCV001083541 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-08-18 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001290610 | SCV001478707 | likely benign | not specified | 2021-01-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002454139 | SCV002613805 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-02 | 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. |
ARUP Laboratories, |
RCV003736940 | SCV004562656 | likely benign | not provided | 2023-09-21 | criteria provided, single submitter | clinical testing |