Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000931256 | SCV001076920 | benign | not provided | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002514616 | SCV003734903 | benign | Inborn genetic diseases | 2022-02-10 | 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. |
ITMI | RCV000120002 | SCV000084132 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |