Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226062 | SCV000289535 | benign | Primary dilated cardiomyopathy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000245207 | SCV000318812 | benign | Cardiovascular phenotype | 2016-06-15 | 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 |
RCV000422509 | SCV000528231 | benign | not specified | 2017-07-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Fulgent Genetics, |
RCV002494652 | SCV002801598 | benign | Glucocorticoid deficiency 5 | 2021-10-15 | criteria provided, single submitter | clinical testing |