Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000969818 | SCV001117353 | benign | Lowe syndrome | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001532711 | SCV001748382 | likely benign | not provided | 2021-04-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002427404 | SCV002730581 | benign | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2018-01-31 | 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. |