Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000421882 | SCV000532104 | likely benign | not specified | 2016-09-22 | 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. |
Color Diagnostics, |
RCV001189448 | SCV001356742 | likely benign | Cardiomyopathy | 2018-11-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001411670 | SCV001613734 | likely benign | Lethal congenital glycogen storage disease of heart | 2022-10-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365552 | SCV002664462 | likely benign | Cardiovascular phenotype | 2022-08-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |