Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000247798 | SCV000320464 | benign | Cardiovascular phenotype | 2015-11-20 | 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 |
RCV001722379 | SCV000529300 | benign | not provided | 2019-03-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000469152 | SCV000557803 | benign | Primary dilated cardiomyopathy | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002494795 | SCV002794639 | benign | Glucocorticoid deficiency 5 | 2021-09-30 | criteria provided, single submitter | clinical testing |