Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000428406 | SCV000526706 | likely benign | not specified | 2017-01-26 | 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. |
Invitae | RCV000883013 | SCV001026284 | likely benign | Lethal congenital glycogen storage disease of heart | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003168663 | SCV003902609 | likely benign | Cardiovascular phenotype | 2023-03-13 | 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. |
Color Diagnostics, |
RCV003532105 | SCV004359736 | likely benign | Cardiomyopathy | 2022-11-06 | criteria provided, single submitter | clinical testing |