Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537712 | SCV000653833 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002461328 | SCV000847551 | benign | Inborn genetic diseases | 2016-03-01 | 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. |
Athena Diagnostics Inc | RCV000537712 | SCV001144366 | benign | not provided | 2018-10-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000537712 | SCV001844900 | benign | not provided | 2019-08-28 | criteria provided, single submitter | clinical testing |