Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000712896 | SCV000843447 | benign | not provided | 2018-04-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316011 | SCV000848790 | likely benign | Inborn genetic diseases | 2018-07-27 | 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. |
Gene |
RCV000712896 | SCV001938423 | benign | not provided | 2019-07-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000712896 | SCV002449416 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing |