Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000712135 | SCV000653810 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712135 | SCV000842558 | benign | not provided | 2018-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002461321 | SCV000847351 | benign | Inborn genetic diseases | 2014-09-30 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 |
RCV000712135 | SCV001856499 | benign | not provided | 2019-09-13 | criteria provided, single submitter | clinical testing |